NM_015058.2(VWA8):c.947A>G (p.Asp316Gly) AND Developmental delay

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003154085.2

Allele description [Variation Report for NM_015058.2(VWA8):c.947A>G (p.Asp316Gly)]

NM_015058.2(VWA8):c.947A>G (p.Asp316Gly)

Gene:

VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

Preferred name:

NM_015058.2(VWA8):c.947A>G (p.Asp316Gly)

HGVS:

NC_000013.11:g.41885948T>C
NM_001009814.2:c.947A>G
NM_015058.2:c.947A>GMANE SELECT
NP_001009814.1:p.Asp316Gly
NP_055873.1:p.Asp316Gly
NC_000013.10:g.42460084T>C
NM_015058.1:c.947A>G

Protein change:

D316G; ASP316GLY

Links:

OMIM: 617509.0001

Molecular consequence:

NM_001009814.2:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015058.2:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental delay
Identifiers:: MedGen: C0424605

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003803011	Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	no assertion criteria provided	Uncertain significance	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34660594, 36937954

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003803011

Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

no assertion criteria provided

Uncertain significance

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.

Umair M, Farooq Khan M, Aldrees M, Nashabat M, Alhamoudi KM, Bilal M, Alyafee Y, Al Tuwaijri A, Aldarwish M, Al-Rumayyan A, Alkhalaf H, Wadaan MAM, Alfadhel M.

Front Cell Dev Biol. 2021;9:736960. doi: 10.3389/fcell.2021.736960.

PubMed [citation]

PMID:: 34660594
PMCID:: PMC8517341

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Alotibi RS, Sannan NS, AlEissa M, Aldriwesh MG, Al Tuwaijri A, Akiel MA, Almutairi M, Alsamer A, Altharawi N, Aljawfan G, Alotiabi B, AlBlawi MA, Alfares A.

Front Pediatr. 2023;11:1133789. doi: 10.3389/fped.2023.1133789.

PubMed [citation]

PMID:: 36937954
PMCID:: PMC10014736

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003803011.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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