ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.550-2A>G

dbSNP: rs1556639352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000515100 SCV004013802 pathogenic Uruguay Faciocardiomusculoskeletal syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with FHL1 related disorder (ClinVar ID: VCV000445279 / PMID: 26933038). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000515100 SCV000609504 pathogenic Uruguay Faciocardiomusculoskeletal syndrome 2024-02-06 no assertion criteria provided literature only

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