ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1805C>A (p.Pro602His)

gnomAD frequency: 0.00003  dbSNP: rs370950631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221949 SCV001394025 uncertain significance Fanconi anemia 2019-04-18 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 602 of the FANCG protein (p.Pro602His). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FANCG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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