ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) (rs797044490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151481 SCV000199548 pathogenic Rare genetic deafness 2013-05-07 criteria provided, single submitter clinical testing The Ile325fs variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 325 and lead to a prema ture termination codon 36 amino acids downstream. This alteration is then predic ted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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