ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3372G>A (p.Thr1124=) (rs556913973)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519790 SCV000620613 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing The c.3372 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3372 G>A variant is observed in 3/16,512 (0.02%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide change results in a synonymous amino acid substitution at a position that is not conserved. Multiple in silico algorithms predict c.3372 G>A creates a cryptic splice acceptor site which may alter gene splicing; however, in the absence of RNA/functional studies the actual effect of c.3372 G>A on splicing in this individual is unknown.

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