ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.15G>C (p.Trp5Cys)

dbSNP: rs2143731999
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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 RCV001372794 SCV001569483 uncertain significance Fanconi anemia 2020-06-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCA-related conditions. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces tryptophan with cysteine at codon 5 of the FANCA protein (p.Trp5Cys). The tryptophan residue is weakly conserved and there is a large physicochemical difference between tryptophan and cysteine.

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