ClinVar Miner

Submissions for variant NM_005247.4(FGF3):c.45del (p.Trp16fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003110106 SCV003762051 likely pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003110106 SCV004225741 likely pathogenic not provided 2023-03-15 criteria provided, single submitter clinical testing PM2, PVS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003110106 SCV005696687 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp16Glyfs*63) in the FGF3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FGF3 are known to be pathogenic (PMID: 18435799). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with FGF3-related conditions (PMID: 36934406). ClinVar contains an entry for this variant (Variation ID: 2413091). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004754962 SCV005364752 likely pathogenic FGF3-related disorder 2024-04-12 no assertion criteria provided clinical testing The FGF3 c.45delC variant is predicted to result in a frameshift and premature protein termination (p.Gly15Glyfs*64). This variant has not been reported in the literature. This variant is reported in 0.0069% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in FGF3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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