ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) (rs369458838)

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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, Partners HealthCare Personalized Medicine RCV000155024 SCV000204707 likely pathogenic Rare genetic deafness 2013-03-16 criteria provided, single submitter clinical testing The Ser1276Leu variant in MYO7A has not been reported in the literature nor iden tified by our laboratory in any other families. However, identification of this variant in trans with another MYO7A in this individual?s daughter who has clinic al features of Usher syndrome increases the likelihood that this variant is path ogenic. In addition, computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser1276Leu varian t may impact the protein. It should be noted that this variant has been identifi ed in 1/3582 (0.02%) African American chromosomes from a broad population (NHLBI Exome Sequencing Project;, however, its frequ ency is low enough to be consistent with a recessive carrier frequency. In summa ry, this variant is likely to be pathogenic, though additional studies are requi red to fully establish its clinical significance.
Counsyl RCV000675121 SCV000800675 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-03-19 criteria provided, single submitter clinical testing

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