ClinVar Miner

Submissions for variant NM_018654.2(GPRC5D):c.819C>G (p.Cys273Trp)

gnomAD frequency: 0.00022  dbSNP: rs146288496
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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 RCV004193178 SCV003694702 uncertain significance not specified 2022-05-27 criteria provided, single submitter clinical testing The c.819C>G (p.C273W) alteration is located in exon 1 (coding exon 1) of the GPRC5D gene. This alteration results from a C to G substitution at nucleotide position 819, causing the cysteine (C) at amino acid position 273 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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