ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.509A>C (p.His170Pro)

dbSNP: rs1484795726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814542 SCV001755577 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003127986 SCV003802857 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing The FHL1 c.461A>C (p.His154Pro) missense variant results in the substitution of histidine at amino acid position 154 with proline. The c.461A>C variant has been reported in one family with six affected individuals with FHL1-related disorders; however, the genotypes and phenotypes of most family members were not provided (PMID: 27234031). The proband described was a 35-year-old heterozygous female with proximal muscle weakness, difficulty climbing stairs, and elevated CK level; it was noted that hemizygous males in the family had a more severe phenotype with earlier age of onset (PMID: 27234031). This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The c.461A>C variant was identified in a hemizygous state in the proband. Based on the available evidence, the c.461A>C (p.His154Pro) variant is classified as a variant of uncertain significance for FHL1-related disorders.

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