ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.513G>A (p.Thr171=)

gnomAD frequency: 0.00001  dbSNP: rs1018740778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493250 SCV000581753 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing The c.513 G>A variant in the FHL2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This substitution occurs at a nucleotide position that is not conserved. Although the c.513 G>A (T171=) variant results in a synonymous amino acid substitution, multiple in-silico splice prediction models predict that c.513 G>A may create a cryptic splice acceptor site which may supplant the natural splice acceptor site in exon 5 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.513 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.513 G>A as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524013 SCV003274732 likely benign Primary dilated cardiomyopathy 2022-03-03 criteria provided, single submitter clinical testing

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