ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.592G>A (p.Val198Met)

dbSNP: rs369419802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375450 SCV001572075 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, PP3_Supporting
Invitae RCV001865880 SCV002159194 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1065100). This variant has not been reported in the literature in individuals affected with LHFPL5-related conditions. This variant is present in population databases (rs369419802, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 198 of the LHFPL5 protein (p.Val198Met).

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