ClinVar Miner

Submissions for variant NM_018654.2(GPRC5D):c.305T>G (p.Leu102Arg)

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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 RCV005351595 SCV006012733 uncertain significance not specified 2025-01-22 criteria provided, single submitter clinical testing The c.305T>G (p.L102R) alteration is located in exon 1 (coding exon 1) of the GPRC5D gene. This alteration results from a T to G substitution at nucleotide position 305, causing the leucine (L) at amino acid position 102 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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