ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) (rs199818783)

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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 RCV000036039 SCV000059691 uncertain significance not specified 2013-05-07 criteria provided, single submitter clinical testing The Arg378Cys variant in MYO7A has been previously identified by our laboratory in one individual with Usher syndrome; however, the variant was heterozygous in this individual and a second MYO7A variant was not detected (LMM unpublished da ta). It has also been identified in 0.04% (3/8378) of European American chromos omes by the NHLBI Exome sequencing project (; db SNP rs199818783). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational a nalyses (biochemical, amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to determine the clinical signifi cance of this variant.
Counsyl RCV000665432 SCV000789556 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-07 criteria provided, single submitter clinical testing

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