ClinVar Miner

Submissions for variant NM_018654.2(GPRC5D):c.949C>T (p.Pro317Ser)

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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 RCV004922540 SCV005591427 uncertain significance not specified 2024-09-09 criteria provided, single submitter clinical testing The c.949C>T (p.P317S) alteration is located in exon 2 (coding exon 2) of the GPRC5D gene. This alteration results from a C to T substitution at nucleotide position 949, causing the proline (P) at amino acid position 317 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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