ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9631C>A (p.Arg3211Ser)

dbSNP: rs759450249
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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 RCV000804166 SCV000944062 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 649272). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 3154 of the SZT2 protein (p.Arg3154Ser).

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