ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) (rs397516282)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668099 SCV000792648 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-07-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036040 SCV000059692 uncertain significance not specified 2012-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg378His varia nt in MYO7A has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg378His variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of this variant canno t be determined with certainty.

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