ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.288del (p.Phe96fs)

dbSNP: rs2148373432
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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 RCV001956073 SCV002247047 pathogenic X-linked myopathy with postural muscle atrophy 2021-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe80Leufs*72) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807).
Ambry Genetics RCV002442948 SCV002733738 pathogenic Cardiovascular phenotype 2022-02-16 criteria provided, single submitter clinical testing The c.240delT pathogenic mutation, located in coding exon 2 of the FHL1 gene, results from a deletion of one nucleotide at nucleotide position 240, causing a translational frameshift with a predicted alternate stop codon (p.F80Lfs*72). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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