ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)

dbSNP: rs150600947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052658 SCV001216879 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 4636 of the USH2A protein (p.Pro4636Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs150600947, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001276152 SCV001462006 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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