ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)

gnomAD frequency: 0.00005  dbSNP: rs534473091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439958 SCV000536448 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Has not been reported in association with cardiomyopathy to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32430163, 31127727)
Invitae RCV000813845 SCV000954225 uncertain significance Dilated cardiomyopathy 1II 2023-08-04 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 393088). This missense change has been observed in individual(s) with CRYAB-related conditions (PMID: 31127727, 32430163). This variant is present in population databases (rs534473091, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 123 of the CRYAB protein (p.Arg123Trp).
Fulgent Genetics, Fulgent Genetics RCV002481349 SCV002785977 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-08-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000439958 SCV003828661 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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