ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)

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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 RCV002953080 SCV003273430 uncertain significance Fanconi anemia 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1142 of the FANCA protein (p.Cys1142Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765605 SCV005381147 uncertain significance not specified 2024-08-13 criteria provided, single submitter clinical testing Variant summary: FANCA c.3425G>A (p.Cys1142Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251304 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3425G>A has been reported in the literature in individuals affected with Pancytopenia (Arts_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31203817). ClinVar contains an entry for this variant (Variation ID: 2061966). Based on the evidence outlined above, the variant was classified as uncertain significance.

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