ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)

gnomAD frequency: 0.00006  dbSNP: rs761847384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279917 SCV001467054 benign Primary hyperoxaluria, type II 2020-10-09 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355033 SCV001549793 uncertain significance not provided no assertion criteria provided clinical testing The GRHPR p.T12A variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs761847384) and in control databases in 14 of 222536 chromosomes (1 homozygous) at a frequency of 0.00006291, and was only observed in the South Asian population in 14 of 28138  chromosomes (freq: 0.0004975) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.T12 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) suggest that the variant may impact the protein; however this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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