ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)

gnomAD frequency: 0.00002  dbSNP: rs768705041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526118 SCV000647049 likely benign X-linked myopathy with postural muscle atrophy 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395422 SCV002668811 uncertain significance Cardiovascular phenotype 2022-04-03 criteria provided, single submitter clinical testing The p.K254R variant (also known as c.761A>G), located in coding exon 5 of the FHL1 gene, results from an A to G substitution at nucleotide position 761. The lysine at codon 254 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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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