ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)

gnomAD frequency: 0.00001  dbSNP: rs771493123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804065 SCV000943959 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 577 of the SDCCAG8 protein (p.Gln577Pro). This variant is present in population databases (rs771493123, 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: 649190). 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: "Deleterious"; 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.
Fulgent Genetics, Fulgent Genetics RCV000804065 SCV002784696 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538099 SCV004120128 uncertain significance SDCCAG8-related disorder 2024-02-13 criteria provided, single submitter clinical testing The SDCCAG8 c.1730A>C variant is predicted to result in the amino acid substitution p.Gln577Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% 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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