ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)

gnomAD frequency: 0.00003  dbSNP: rs397516686
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Total submissions: 5
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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 RCV000037215 SCV000060872 likely pathogenic Cardiomyopathy 2012-02-13 criteria provided, single submitter clinical testing The Met1? variant (CRYAB) has not been reported in the literature and has not be en previously detected by our laboratory. This variant is predicted to severely affect the synthesis of the CRYAB protein by disrupting the translation initiat ion start codon (ATG). In summary, this variant is likely to be pathogenic.
GeneDx RCV001787334 SCV000680849 pathogenic not provided 2021-11-24 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31215171, 33834702)
Labcorp Genetics (formerly Invitae), Labcorp RCV001358809 SCV001554661 pathogenic Dilated cardiomyopathy 1II 2023-12-12 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CRYAB mRNA. The next in-frame methionine is located at codon 68. This variant is present in population databases (rs397516686, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. Disruption of the initiator codon has been observed in individuals with autosomal recessive myofibrillar myopathy (PMID: 31215171, 33834702). ClinVar contains an entry for this variant (Variation ID: 44236). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247423 SCV002518163 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001787334 SCV003828666 uncertain significance not provided 2021-03-24 criteria provided, single submitter clinical testing

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