ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)

dbSNP: rs145768025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813755 SCV000954127 uncertain significance Dilated cardiomyopathy 1II 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 39 of the CRYAB protein (p.Pro39Ser). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 657190). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002352426 SCV002621732 uncertain significance Cardiovascular phenotype 2020-12-24 criteria provided, single submitter clinical testing The p.P39S variant (also known as c.115C>T), located in coding exon 1 of the CRYAB gene, results from a C to T substitution at nucleotide position 115. The proline at codon 39 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other vertebrate species. 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 RCV002507422 SCV002814912 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-07-22 criteria provided, single submitter clinical testing

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