NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) AND Usher syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001110609.6

Allele description [Variation Report for NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)]

NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)

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.1817G>A (p.Arg606His)

Other names:

NM_000260.3(MYO7A):c.1817G>A(p.Arg606His); NM_000260.3(MYO7A):c.1817G>A; p.Arg606His; NM_000260.4(MYO7A):c.1817G>A

HGVS:

NC_000011.10:g.77172767G>A
NG_009086.2:g.49522G>A
NM_000260.4:c.1817G>AMANE SELECT
NM_001127180.2:c.1817G>A
NM_001369365.1:c.1784G>A
NP_000251.3:p.Arg606His
NP_001120652.1:p.Arg606His
NP_001356294.1:p.Arg595His
LRG_1420t1:c.1817G>A
LRG_1420:g.49522G>A
LRG_1420p1:p.Arg606His
NC_000011.9:g.76883813G>A
NG_009086.1:g.49504G>A
NM_000260.3:c.1817G>A

Protein change:

R595H

Links:

dbSNP: rs782311929

NCBI 1000 Genomes Browser:

rs782311929

Molecular consequence:

NM_000260.4:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.1784G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome type 1 (USH1)
Synonyms:: Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001268068	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001268068

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

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

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]

PMID:: 22135276
PMCID:: PMC3678402

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001268068.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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: Dec 24, 2023

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