ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.580C>T (p.Pro194Ser)

dbSNP: rs1554670412
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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 RCV000538737 SCV000626337 uncertain significance Fanconi anemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 194 of the FANCG protein (p.Pro194Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001271372 SCV001452483 uncertain significance Fanconi anemia complementation group G 2020-04-13 no assertion criteria provided clinical testing

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