ClinVar Miner

Submissions for variant NM_000143.4(FH):c.941C>G (p.Ala314Gly)

dbSNP: rs1659856002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002545624 SCV001544318 uncertain significance not provided 2023-01-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 314 of the FH protein (p.Ala314Gly). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FH protein function. ClinVar contains an entry for this variant (Variation ID: 1045525). This variant has not been reported in the literature in individuals affected with FH-related conditions. This variant is not present in population databases (gnomAD no frequency).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232283 SCV005873479 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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