ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)

gnomAD frequency: 0.00474  dbSNP: rs142356700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000266993 SCV000480143 likely benign Primary hyperoxaluria, type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000969045 SCV001116536 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374610 SCV002690675 likely benign Nephrolithiasis/nephrocalcinosis 2022-10-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000266993 SCV002795071 likely benign Primary hyperoxaluria, type II 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000266993 SCV001458626 benign Primary hyperoxaluria, type II 2019-10-28 no assertion criteria provided clinical testing

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