ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)

dbSNP: rs782728522
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Total submissions: 2
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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 RCV000151484 SCV000199552 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing The Leu375Val variant in MYO7A has not been previously reported in individuals w ith hearing loss. Sequencing data from large population studies is insufficient to assess variant frequency. Computational analyses (biochemical amino acid prop erties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong supp ort for or against an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant.
Counsyl RCV000669568 SCV000794333 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-09-22 criteria provided, single submitter clinical testing

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