ClinVar Miner

Submissions for variant NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)

gnomAD frequency: 0.00079  dbSNP: rs137852660
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239300 SCV000297352 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000767027 SCV000616947 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Identified in a patient with VATER/VACTERL-like phenotype and the unaffected father and paternal grandfather in published literature (Zeidler et al., 2014); Published functional in vitro studies demonstrate that the variant results in a significant reduction in reporter activity compared to wild-type; the senior author has suggested it could act as a modifier locus (Falardeau et al., 2008; N. Pitteloud, personal communication); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20463092, 21506104, 21045958, 27899157, 30669598, 20696889, 23643382, 25131394, 29419413, 28754744, 29165578, 28387797, 18596921, 34198905, 36842078)
Invitae RCV000767027 SCV001014041 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000009692 SCV003830987 uncertain significance Hypogonadotropic hypogonadism 6 with or without anosmia 2019-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000767027 SCV004010011 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FGF8: BS1
OMIM RCV000009692 SCV000029910 pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia 2008-08-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000009692 SCV002074980 not provided Hypogonadotropic hypogonadism 6 with or without anosmia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-23-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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