ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr)

gnomAD frequency: 0.00016  dbSNP: rs113602485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418398 SCV001620624 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456676 SCV002614670 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-09-26 criteria provided, single submitter clinical testing The p.A115T variant (also known as c.343G>A), located in coding exon 4 of the GRHPR gene, results from a G to A substitution at nucleotide position 343. The alanine at codon 115 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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