ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) (rs199606180)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036200 SCV000059852 pathogenic Rare genetic deafness 2014-08-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Counsyl RCV000669133 SCV000793849 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001223334 SCV001395477 pathogenic not provided 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1887 of the MYO7A protein (p.Pro1887Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs199606180, ExAC 0.01%). This variant has been observed to segregate with deafness in a family (PMID: 24194196) and has been observed in other individuals affected with MY07A-related conditions (PMID: 10930322, 25468891). ClinVar contains an entry for this variant (Variation ID: 43295). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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