ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)

dbSNP: rs370072966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034762 SCV001198060 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 425 of the SDCCAG8 protein (p.Val425Ile). This variant is present in population databases (rs370072966, gnomAD 0.007%). 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: 834136). 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 isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001034762 SCV002788747 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552062 SCV003701056 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.1273G>A (p.V425I) alteration is located in exon 11 (coding exon 11) of the SDCCAG8 gene. This alteration results from a G to A substitution at nucleotide position 1273, causing the valine (V) at amino acid position 425 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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