ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)

gnomAD frequency: 0.00002  dbSNP: rs193921082
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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 RCV000704147 SCV000833085 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019782 SCV001180008 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-10-20 criteria provided, single submitter clinical testing The p.R1041W variant (also known as c.3121C>T), located in coding exon 6 of the CASR gene, results from a C to T substitution at nucleotide position 3121. The arginine at codon 1041 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Science for Life laboratory, Karolinska Institutet RCV000149000 SCV000088642 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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