ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)

gnomAD frequency: 0.00003  dbSNP: rs183007628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183827 SCV000236309 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing Reported in one individual with DCM; however, this individual also harbored a variant in the LDB3 gene, and there were not a sufficient number of affected family members to assess segregation with disease (Li et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 202044; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 22466703, 20590677, 30547036, 29304022)
Ambry Genetics RCV000619976 SCV000736572 uncertain significance Cardiovascular phenotype 2023-01-30 criteria provided, single submitter clinical testing The p.V535I variant (also known as c.1603G>A), located in coding exon 6 of the RBM20 gene, results from a G to A substitution at nucleotide position 1603. The valine at codon 535 is replaced by isoleucine, an amino acid with highly similar properties. This variant was reported in a patient with dilated cardiomyopathy (DCM) who also carried an alteration in LDB3, and was also detected in association with DCM in an additional cohort; however, details were limited (Li D et al, Clin Transl Sci 2010 Jun; 3(3):90-7; Smith E et al. J Am Heart Assoc. 2022 May;11(9):e024501). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000690518 SCV000818205 likely benign Dilated cardiomyopathy 1DD 2024-01-05 criteria provided, single submitter clinical testing
Mendelics RCV000690518 SCV001138170 benign Dilated cardiomyopathy 1DD 2019-05-28 criteria provided, single submitter clinical testing

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