ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.355T>C (p.Cys119Arg)

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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 RCV004507582 SCV005012706 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.355T>C (p.C119R) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a T to C substitution at nucleotide position 355, causing the cysteine (C) at amino acid position 119 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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