ClinVar Miner

Submissions for variant NM_004113.6(FGF12):c.164C>T (p.Ala55Val)

gnomAD frequency: 0.00001  dbSNP: rs200858435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786737 SCV002028654 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001786737 SCV002405758 benign not provided 2023-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001786737 SCV002821232 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289093 SCV003962489 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.350C>T (p.A117V) alteration is located in exon 3 (coding exon 3) of the FGF12 gene. This alteration results from a C to T substitution at nucleotide position 350, causing the alanine (A) at amino acid position 117 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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