ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.569C>T (p.Ser190Phe) (rs1057523462)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437735 SCV000532111 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing The S190F variant of uncertain significance in the BAG3 gene has not been published as a pathogenic or benignvariant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. The S190F variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis also predictsthis variant is probably damaging to the protein structure/function. Nevertheless, this substitution occurs at a positionthat is not conserved.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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