ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)

gnomAD frequency: 0.00001  dbSNP: rs1298150302
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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 RCV001946460 SCV002215320 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 404 of the SDCCAG8 protein (p.Met404Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1436843). 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 valine 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 RCV001946460 SCV002815922 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561556 SCV003643195 uncertain significance Inborn genetic diseases 2022-08-31 criteria provided, single submitter clinical testing The c.1210A>G (p.M404V) alteration is located in exon 10 (coding exon 10) of the SDCCAG8 gene. This alteration results from a A to G substitution at nucleotide position 1210, causing the methionine (M) at amino acid position 404 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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