ClinVar Miner

Submissions for variant NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu)

gnomAD frequency: 0.00013  dbSNP: rs149797560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000435958 SCV000343645 uncertain significance not provided 2016-08-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000435958 SCV000511155 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000435958 SCV002004554 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000435958 SCV002178826 uncertain significance not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 3 of the CRYM protein (p.Arg3Leu). This variant is present in population databases (rs149797560, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CRYM-related conditions. ClinVar contains an entry for this variant (Variation ID: 289303). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

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