ClinVar Miner

Submissions for variant NM_080657.5(RSAD2):c.64A>C (p.Ser22Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004660980 SCV005157404 uncertain significance not specified 2024-05-12 criteria provided, single submitter clinical testing The c.64A>C (p.S22R) alteration is located in exon 1 (coding exon 1) of the RSAD2 gene. This alteration results from a A to C substitution at nucleotide position 64, causing the serine (S) at amino acid position 22 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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