ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-9del

dbSNP: rs374867802
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000279253 SCV000342509 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000279253 SCV001785409 likely benign not provided 2023-10-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059236 SCV002430175 benign X-linked myopathy with postural muscle atrophy 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699283 SCV004223180 likely benign not specified 2023-11-27 criteria provided, single submitter clinical testing Variant summary: FHL1 c.889-9delT alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.889-9delT in individuals affected with Emery-Dreifuss Muscular Dystrophy and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, and classified it as benign (n=1), likely benign (n=1), or uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as likely benign.
Clinical Genetics, Academic Medical Center RCV001699283 SCV001921879 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699283 SCV001967078 benign not specified no assertion criteria provided clinical testing

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