NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) AND MYO7A-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004534753.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)]

NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)

HGVS:

NC_000011.10:g.77172796C>T
NG_009086.2:g.49551C>T
NM_000260.4:c.1846C>TMANE SELECT
NM_001127180.2:c.1846C>T
NM_001369365.1:c.1813C>T
NP_000251.3:p.Arg616Trp
NP_001120652.1:p.Arg616Trp
NP_001356294.1:p.Arg605Trp
LRG_1420t1:c.1846C>T
LRG_1420:g.49551C>T
LRG_1420p1:p.Arg616Trp
NC_000011.9:g.76883842C>T
NG_009086.1:g.49533C>T
NM_000260.3:c.1846C>T
c.1846C>T

Protein change:

R605W

Links:

dbSNP: rs369195493

NCBI 1000 Genomes Browser:

rs369195493

Molecular consequence:

NM_000260.4:c.1846C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.1846C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MYO7A-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004115408	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004115408

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 2, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115408.1

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

Description

The MYO7A c.1846C>T variant is predicted to result in the amino acid substitution p.Arg616Trp. This variant was reported in an individual with non-syndromic hearing loss (Table S1, Sommen. 2016. PubMed ID: 27068579). This variant is reported in 0.027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-76883842-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 18, 2024

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