ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)

gnomAD frequency: 0.00002  dbSNP: rs768737324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536046 SCV000651040 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2025-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491079 SCV002784621 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159896 SCV003859327 uncertain significance Cardiovascular phenotype 2022-12-27 criteria provided, single submitter clinical testing The p.A1569T variant (also known as c.4705G>A), located in coding exon 27 of the FLNC gene, results from a G to A substitution at nucleotide position 4705. The alanine at codon 1569 is replaced by threonine, an amino acid with similar properties. This variant co-occurred with variants in other genes in a case from a limb-girdle muscular dystrophy cohort (Fichna JP et al. Hum Genomics, 2018 Jul;12:34). 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 alteration remains unclear.

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