ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys)

gnomAD frequency: 0.00006  dbSNP: rs372641187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823852 SCV002073519 uncertain significance Bardet-Biedl syndrome 16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869826 SCV002182992 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 597 of the SDCCAG8 protein (p.Thr597Lys). This variant is present in population databases (rs372641187, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1339329). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003136181 SCV003819234 uncertain significance not provided 2020-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163972 SCV003864330 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.1790C>A (p.T597K) alteration is located in exon 15 (coding exon 15) of the SDCCAG8 gene. This alteration results from a C to A substitution at nucleotide position 1790, causing the threonine (T) at amino acid position 597 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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