ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)

gnomAD frequency: 0.00003  dbSNP: rs541868979
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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 RCV000792277 SCV000931562 uncertain significance Fanconi anemia 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 590 of the FANCG protein (p.Pro590Ala). This variant is present in population databases (rs541868979, gnomAD 0.1%). 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: 639475). 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: "Probably 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.
Natera, Inc. RCV001835959 SCV002085266 uncertain significance Fanconi anemia complementation group G 2020-03-31 no assertion criteria provided clinical testing

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