ClinVar Miner

Submissions for variant NM_000143.4(FH):c.944T>C (p.Leu315Pro)

dbSNP: rs1573880531
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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 RCV002536030 SCV000965507 likely pathogenic not provided 2023-06-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects FH function (PMID: 21560188). 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 expected to disrupt FH protein function. ClinVar contains an entry for this variant (Variation ID: 666168). This variant is also known as c.815T>C (p.Leu272Pro). This missense change has been observed in individuals with hereditary leiomyomatosis and renal cell carcinoma (PMID: 21398687, 28300276). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 315 of the FH protein (p.Leu315Pro).
Mendelics RCV004698852 SCV005200760 likely pathogenic Hereditary cancer 2024-08-12 criteria provided, single submitter clinical testing

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