ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2736C>T (p.Gly912=)

gnomAD frequency: 0.00002  dbSNP: rs768894698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649124 SCV000770949 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440344 SCV002747766 uncertain significance Cardiovascular phenotype 2020-03-24 criteria provided, single submitter clinical testing The c.2736C>T (p.G912G) alteration is located in exon 18 (coding exon 18) of the FLNC gene. This alteration consists of a C to T substitution at nucleotide position 2736. This nucleotide substitution does not change the amino acid at codon 912. However, this change occurs in the last nucleotide of Exon 18 (c.2642_2811) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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