ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp)

gnomAD frequency: 0.00004  dbSNP: rs727504182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154022 SCV000203650 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000154022 SCV001250112 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000154022 SCV001517586 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 928 of the TRPM1 protein (p.Arg928Trp). This variant is present in population databases (rs727504182, gnomAD 0.008%). This missense change has been observed in individuals with congenital stationary night blindness (CSNB) (PMID: 28341476, 31725702, 32141364, 35119454). ClinVar contains an entry for this variant (Variation ID: 167749). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRPM1 protein function. This variant disrupts the p.Arg928 amino acid residue in TRPM1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24715752, 31427709). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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