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NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) AND Congenital NAD deficiency disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2019
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:
RCV001078189.1

Allele description [Variation Report for NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)]

NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)

Gene:
NADSYN1:NAD synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)
HGVS:
  • NC_000011.10:g.71474463T>A
  • NM_018161.5:c.735T>AMANE SELECT
  • NP_060631.2:p.Cys245Ter
  • NC_000011.9:g.71185509T>A
Protein change:
C245*; CYS245TER
Links:
OMIM: 608285.0003; dbSNP: rs1949650831
NCBI 1000 Genomes Browser:
rs1949650831
Molecular consequence:
  • NM_018161.5:c.735T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital NAD deficiency disorder
Identifiers:
MedGen: CN241975

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244275Embryology Laboratory, Victor Chang Cardiac Research Institute
no assertion criteria provided
Pathogenic
(Dec 1, 2019) 		inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch

Citations

PubMed

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL.

Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26.

PubMed [citation]
PMID:
31883644
PMCID:
PMC7042491

Details of each submission

From Embryology Laboratory, Victor Chang Cardiac Research Institute, SCV001244275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

This variant, c.735T>A, was found in compound heterozygosity with the pathogenic variant c.1839C>G

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not provideddiscovery1not providednot providednot provided

Last Updated: Apr 23, 2022