ClinVar Miner

Submissions for variant NM_000143.4(FH):c.-3A>G

gnomAD frequency: 0.00004  dbSNP: rs202145941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697448 SCV000716785 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021620 SCV001183258 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-21 criteria provided, single submitter clinical testing The c.-3A>G variant is located in the 5' untranslated region (5’ UTR) of the FH gene. This variant results from an A to G substitution 3 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320713 SCV004025219 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004555588 SCV004741733 likely benign FH-related disorder 2024-01-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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