ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.380C>T (p.Pro127Leu)

gnomAD frequency: 0.00010  dbSNP: rs763052360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001444047 SCV001647040 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038423 SCV003970163 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-05-03 criteria provided, single submitter clinical testing The c.380C>T (p.P127L) alteration is located in exon 4 (coding exon 4) of the GRHPR gene. This alteration results from a C to T substitution at nucleotide position 380, causing the proline (P) at amino acid position 127 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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