NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) AND Autosomal recessive nonsyndromic hearing loss 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 15, 2018
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:: RCV000672711.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)]

NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)

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.5618G>A (p.Arg1873Gln)

HGVS:

NC_000011.10:g.77205599G>A
NG_009086.2:g.82354G>A
NM_000260.4:c.5618G>AMANE SELECT
NM_001127180.2:c.5504G>A
NM_001369365.1:c.5471G>A
NP_000251.3:p.Arg1873Gln
NP_001120652.1:p.Arg1835Gln
NP_001356294.1:p.Arg1824Gln
LRG_1420t1:c.5618G>A
LRG_1420:g.82354G>A
LRG_1420p1:p.Arg1873Gln
NC_000011.9:g.76916644G>A
NG_009086.1:g.82335G>A
NM_000260.3:c.5618G>A
NM_000260.4(MYO7A):c.5618G>AMANE SELECT
c.5618G>A

Protein change:

R1824Q

Links:

dbSNP: rs397516322

NCBI 1000 Genomes Browser:

rs397516322

Molecular consequence:

NM_000260.4:c.5618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.5504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.5471G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 2
Synonyms:: DEAFNESS, AUTOSOMAL RECESSIVE 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:: MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797845	Counsyl	no assertion criteria provided	Likely pathogenic (Feb 15, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29196752, 27068579, 23208854

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797845

Counsyl

no assertion criteria provided

Likely pathogenic
(Feb 15, 2018)

unknown

clinical testing

PubMed (3)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, et al.

Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9.

PubMed [citation]

PMID:: 29196752
PMCID:: PMC5711943

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G.

Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6.

PubMed [citation]

PMID:: 27068579

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000797845.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

Last Updated: Jun 29, 2025

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