ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)

gnomAD frequency: 0.00003  dbSNP: rs782316391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690116 SCV000817794 uncertain significance Dilated cardiomyopathy 1II 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 22 of the CRYAB protein (p.Arg22His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 569482). 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. 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.
GeneDx RCV002221577 SCV002499037 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing Has not been published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#569482; Marcos et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32420686)
Fulgent Genetics, Fulgent Genetics RCV002477550 SCV002784990 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-11-22 criteria provided, single submitter clinical testing

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