ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu)

gnomAD frequency: 0.00006  dbSNP: rs1308863502
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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 RCV001055597 SCV001219997 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 851241). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 340 of the SDCCAG8 protein (p.Val340Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions.

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