ClinVar Miner

Submissions for variant NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser)

gnomAD frequency: 0.00009  dbSNP: rs766749712
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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 RCV002023310 SCV002306955 uncertain significance not provided 2023-05-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 705 of the LRRC8A protein (p.Gly705Ser). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1513001). This variant has not been reported in the literature in individuals affected with LRRC8A-related conditions. This variant is present in population databases (rs766749712, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252754 SCV002523395 likely benign See cases 2019-12-17 criteria provided, single submitter clinical testing ACMG classification criteria: BS2, BP4

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