ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)

gnomAD frequency: 0.00001  dbSNP: rs771231175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001464865 SCV001668841 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035496 SCV003717832 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-06-24 criteria provided, single submitter clinical testing The c.578C>T (p.A193V) alteration is located in exon 6 (coding exon 6) of the GRHPR gene. This alteration results from a C to T substitution at nucleotide position 578, causing the alanine (A) at amino acid position 193 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279921 SCV001467058 likely benign Primary hyperoxaluria, type II 2020-08-07 no assertion criteria provided clinical testing

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