ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)

dbSNP: rs193159707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001873002 SCV002144138 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343941 SCV002646335 uncertain significance Cardiovascular phenotype 2019-10-21 criteria provided, single submitter clinical testing The p.T1681M variant (also known as c.5042C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 5042. The threonine at codon 1681 is replaced by methionine, an amino acid with similar properties. This variant was reported in a hypertrophic cardiomyopathy cohort; however, clinical details were limited (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:[Epub ahead of print]). This amino acid position is not well 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 alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003395251 SCV004121263 uncertain significance FLNC-related disorder 2022-10-17 criteria provided, single submitter clinical testing The FLNC c.5042C>T variant is predicted to result in the amino acid substitution p.Thr1681Met. This variant was reported as uncertain significance in an individual with hypertrophic cardiomyopathy (Table 3, Gómez et al. 2017. PubMed ID: 28356264). This variant is reported in 0.046% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128489475-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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