ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)

gnomAD frequency: 0.00006  dbSNP: rs1349139935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349060 SCV001543387 uncertain significance Dilated cardiomyopathy 1II 2023-09-15 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1044759). This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. 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 sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 13 of the CRYAB protein (p.Pro13Thr).
GeneDx RCV001799760 SCV002043912 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#1044759; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002357199 SCV002622252 uncertain significance Cardiovascular phenotype 2023-07-01 criteria provided, single submitter clinical testing The p.P13T variant (also known as c.37C>A), located in coding exon 1 of the CRYAB gene, results from a C to A substitution at nucleotide position 37. The proline at codon 13 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486434 SCV002789447 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-09-20 criteria provided, single submitter clinical testing

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