ClinVar Miner

Submissions for variant NM_000143.4(FH):c.251T>C (p.Val84Ala)

dbSNP: rs878853692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002519779 SCV000283671 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 84 of the FH protein (p.Val84Ala). 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) performed at Invitae indicates that this missense variant is not expected to disrupt FH protein function. ClinVar contains an entry for this variant (Variation ID: 237114). 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).
Fulgent Genetics, Fulgent Genetics RCV000765098 SCV000896307 uncertain significance Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002519779 SCV004234788 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing

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