Submissions for variant NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213416	SCV000270532	likely benign	not specified	2015-05-03	criteria provided, single submitter	clinical testing	p.Arg1243Arg in exon 30 of MYO3A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (51/66154) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs146832858).
Illumina Laboratory Services, Illumina	RCV000372870	SCV000361962	uncertain significance	Autosomal recessive nonsyndromic hearing loss 30	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001575367	SCV001802345	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
Invitae	RCV001575367	SCV002479160	likely benign	not provided	2024-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001575367	SCV004126558	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MYO3A: BP4, BP7

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