Submissions for variant NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)

dbSNP: rs779445819

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000230303	SCV000914752	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	2017-04-28	criteria provided, single submitter	clinical testing	The MYO15A c.6589C>T (p.Gln2197Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Center for Statistical Genetics, Columbia University	RCV000230303	SCV000282044	pathogenic	Autosomal recessive nonsyndromic hearing loss 3	2016-06-06	no assertion criteria provided	research
National Institute on Deafness and Communication Disorders, National Institutes of Health	RCV000230303	SCV000494733	pathogenic	Autosomal recessive nonsyndromic hearing loss 3	2016-03-01	no assertion criteria provided	research