ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)

dbSNP: rs1563986439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692482 SCV000820307 pathogenic Fanconi anemia 2023-09-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 303 of the FANCG protein (p.Leu303Pro). For these reasons, this variant has been classified as Pathogenic. 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 FANCG protein function. ClinVar contains an entry for this variant (Variation ID: 571355). This missense change has been observed in individuals with clinical features of Fanconi anemia (PMID: 12552564, 33718801; Invitae). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV001194955 SCV004199128 likely pathogenic Fanconi anemia complementation group G 2023-09-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194955 SCV001364824 pathogenic Fanconi anemia complementation group G 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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