ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)

dbSNP: rs572095826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342036 SCV001535937 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365344 SCV004056748 uncertain significance Cardiovascular phenotype 2023-09-13 criteria provided, single submitter clinical testing The p.H2000P variant (also known as c.5999A>C), located in coding exon 36 of the FLNC gene, results from an A to C substitution at nucleotide position 5999. The histidine at codon 2000 is replaced by proline, an amino acid with similar properties. 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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