ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)

gnomAD frequency: 0.00011  dbSNP: rs369950120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244319 SCV001417531 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 248 of the GRHPR protein (p.Val248Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs369950120, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with GRHPR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001829926 SCV002790542 uncertain significance Primary hyperoxaluria, type II 2021-12-08 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV001829926 SCV004174330 likely pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter curation Another mutation (c.743T>A), affecting the same amino acid, has been found in a patient with PH2. ACMG: PM1 PM2 PM5 'Likely pathogenic'
Natera, Inc. RCV001829926 SCV002075688 uncertain significance Primary hyperoxaluria, type II 2020-02-26 no assertion criteria provided clinical testing

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