ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1492A>C (p.Asn498His)

gnomAD frequency: 0.00001  dbSNP: rs748364103
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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 RCV001037442 SCV001200854 uncertain significance Fanconi anemia 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 498 of the FANCG protein (p.Asn498His). This variant is present in population databases (rs748364103, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 836334). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV002479242 SCV002790289 uncertain significance Fanconi anemia complementation group G 2021-09-09 criteria provided, single submitter clinical testing

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