NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 2022
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:: RCV001309116.2

Allele description

NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)

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.1997G>A (p.Arg666Gln)

HGVS:

NC_000011.10:g.77174817G>A
NG_009086.2:g.51572G>A
NM_000260.4:c.1997G>AMANE SELECT
NM_001127180.2:c.1997G>A
NM_001369365.1:c.1964G>A
NP_000251.3:p.Arg666Gln
NP_001120652.1:p.Arg666Gln
NP_001356294.1:p.Arg655Gln
LRG_1420t1:c.1997G>A
LRG_1420:g.51572G>A
LRG_1420p1:p.Arg666Gln
NC_000011.9:g.76885863G>A
NG_009086.1:g.51554G>A
NM_000260.3:c.1997G>A
NM_000260.4(MYO7A):c.1997G>AMANE SELECT
p.Arg666Gln

Protein change:

R655Q

Links:

dbSNP: rs782396605

NCBI 1000 Genomes Browser:

rs782396605

Molecular consequence:

NM_000260.4:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

txid613100[Organism:noexp] (4)
Identical Protein Groups

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001498602	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 13, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 27344577, 27460420, 31479088, 33297549, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001498602

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 13, 2022)

germline

clinical testing

PubMed (5)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, et al.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

PubMed [citation]

PMID:: 27344577
PMCID:: PMC5497215

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]

PMID:: 27460420
PMCID:: PMC5117943

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001498602.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 666 of the MYO7A protein (p.Arg666Gln). This variant is present in population databases (rs782396605, gnomAD 0.01%). This missense change has been observed in individual(s) with Usher syndrome, deafness (PMID: 27344577, 27460420, 31479088, 33297549). ClinVar contains an entry for this variant (Variation ID: 556881). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYO7A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Aug 4, 2024

ClinVar

Relating variation to medicine