ClinVar Miner

Submissions for variant NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)

dbSNP: rs386789728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156439 SCV000206158 likely benign not specified 2014-04-28 criteria provided, single submitter clinical testing Glu175Leu variant in exon 7 of CRYM: This variant is not expected to have clini cal significance because it has been identified in 0.43% (19/4398) African Ameri can chromosomes by the NHLBI Exome Sequening Project (http://evs.gs.washington.e du).
Eurofins Ntd Llc (ga) RCV000156439 SCV000333578 likely benign not specified 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV001719981 SCV000621500 benign not provided 2019-07-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001719981 SCV002143988 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This variant, c.523_524delinsTT, is a complex sequence change that results in the deletion of glutamic acid and insertion of leucine amino acid(s) in the CRYM protein (p.Glu175Leu). This variant is present in population databases (rs386789728, gnomAD 0.06%), 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: 179644). 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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