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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418398 SCV001620624 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456676 SCV002614670 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-09-03 criteria provided, single submitter clinical testing The c.343G>A (p.A115T) alteration is located in exon 4 (coding exon 4) of the GRHPR gene. This alteration results from a G to A substitution at nucleotide position 343, causing the alanine (A) at amino acid position 115 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040277 SCV005681926 uncertain significance Primary hyperoxaluria, type II 2024-02-13 criteria provided, single submitter clinical testing

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