ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)

gnomAD frequency: 0.00004  dbSNP: rs769333887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820602 SCV002067994 uncertain significance not specified 2020-04-30 criteria provided, single submitter clinical testing DNA sequence analysis of the SDCCAG8 gene demonstrated a sequence change, c.415T>C, in exon 4 that results in an amino acid change, p.Cys139Arg. This sequence change has been described in the gnomAD database with a low population frequency of 0.001770% (dbSNP rs769333887). The p.Cys139Arg change affects a highly conserved amino acid residue located in a domain of the SDCCAG8 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Cys139Arg substitution. This sequence change does not appear to have been previously described in patients with SDCCAG8-related disorders. Due to these contrasting evidences and the lack of sufficient evidences, the clinical significance of the p.Cys139Arg change remains unknown at this time.
Fulgent Genetics, Fulgent Genetics RCV002506854 SCV002815744 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545155 SCV003705436 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.415T>C (p.C139R) alteration is located in exon 4 (coding exon 4) of the SDCCAG8 gene. This alteration results from a T to C substitution at nucleotide position 415, causing the cysteine (C) at amino acid position 139 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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