ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)

dbSNP: rs1566402514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003574702 SCV004294930 uncertain significance Dilated cardiomyopathy 1II 2023-08-10 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. Experimental studies have shown that this premature translational stop signal affects CRYAB function (PMID: 25961584). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro155Argfs*9) in the CRYAB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acid(s) of the CRYAB protein. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 16955). This variant is also known as 464ΔCT. This premature translational stop signal has been observed in individual(s) with CRYAB-related conditios (PMID: 14681890).
OMIM RCV000018467 SCV000038749 pathogenic Myofibrillar myopathy 2 2003-12-01 no assertion criteria provided literature only

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