ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)

dbSNP: rs149928402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794380 SCV000933785 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 61 of the SDCCAG8 protein (p.Ala61Ser). This variant is present in population databases (rs149928402, gnomAD 0.05%). 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: 641196). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDCCAG8 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000794380 SCV002786396 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-01-12 criteria provided, single submitter clinical testing
New York Genome Center RCV000794380 SCV003925223 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527820 SCV004107651 uncertain significance SDCCAG8-related disorder 2024-02-06 criteria provided, single submitter clinical testing The SDCCAG8 c.181G>T variant is predicted to result in the amino acid substitution p.Ala61Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.048% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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