ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) (rs370232066)

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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 RCV000036161 SCV000059813 uncertain significance not specified 2010-09-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Tyr1580Cys vari ant in MYO7A has not been reported in the literature nor previously identified b y our laboratory. The Tyrosine (Tyr) residue at position 1580 is conserved acros s mammals and some lower species and computational analyses (PolyPhen, SIFT, Ali gnGVGD) suggest that the Tyr1580Cys variant may impact the protein. However, thi s information is not predictive enough to assume pathogenicity. It should be not ed that this lab has only sequenced the MYO7A in approximately 200 individuals s uch that the full spectrum of benign variation has not yet been defined for this gene, increasing the possibility that this could be a benign variant. In summar y, the clinical significance of this variant cannot be determined with certainty at this time.

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