ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) (rs369997614)

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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 RCV000151483 SCV000199551 uncertain significance not specified 2013-06-02 criteria provided, single submitter clinical testing The Arg336Cys variant in MYO7A has not been reported in individuals with hearing loss but has been identified in 0.01% (1/8298) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Comp utational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to t he protein. In summary, additional data is needed to determine the clinical sign ificance of this variant.
Blueprint Genetics RCV001075256 SCV001240871 uncertain significance Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109642 SCV001267003 benign Usher syndrome type 1 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001109643 SCV001267004 benign Deafness, autosomal dominant 11 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001109644 SCV001267005 uncertain significance Deafness, autosomal recessive 2 2017-04-28 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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