ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1132A>T (p.Met378Leu)

gnomAD frequency: 0.00001  dbSNP: rs754394723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001904333 SCV002118437 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 378 of the PRPF31 protein (p.Met378Leu). This variant is present in population databases (rs754394723, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. 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.

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