ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)

gnomAD frequency: 0.00001  dbSNP: rs772853104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734867 SCV000863045 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868997 SCV002153275 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-15 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 598470). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs772853104, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 446 of the SDCCAG8 protein (p.Arg446Gln).
Fulgent Genetics, Fulgent Genetics RCV001868997 SCV002789908 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535879 SCV004105360 uncertain significance SDCCAG8-related disorder 2023-09-22 criteria provided, single submitter clinical testing The SDCCAG8 c.1337G>A variant is predicted to result in the amino acid substitution p.Arg446Gln. This variant was reported as a heterozygous variant of uncertain significance in an individual with Bardet-Biedl syndrome (Nasser et al. 2022. PubMed ID: 35886001). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-243504456-G-A). 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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