ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.64C>T (p.Arg22Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004455264 SCV004944634 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.64C>T (p.R22W) alteration is located in exon 1 (coding exon 1) of the SDCCAG8 gene. This alteration results from a C to T substitution at nucleotide position 64, causing the arginine (R) at amino acid position 22 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015142 SCV005647356 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736437 SCV005364599 uncertain significance SDCCAG8-related disorder 2024-04-25 no assertion criteria provided clinical testing The SDCCAG8 c.64C>T variant is predicted to result in the amino acid substitution p.Arg22Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) 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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