ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) (rs782503314)

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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, Partners HealthCare Personalized Medicine RCV000222692 SCV000272147 uncertain significance not specified 2016-01-15 criteria provided, single submitter clinical testing The p.Arg649Trp variant in MYO7A has been reported in one paper without clinical information (Cremers 2007) and has been identified in 1/24258 European chromoso mes and 1/2556 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the gen eral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Arg 649Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg649Trp variant is uncertain.
Counsyl RCV000666700 SCV000791039 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112600 SCV001270275 uncertain significance Deafness, autosomal recessive 2 2017-04-27 criteria provided, single submitter clinical testing 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001112601 SCV001270276 uncertain significance Deafness, autosomal dominant 11 2017-04-27 criteria provided, single submitter clinical testing 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001113932 SCV001271745 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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