ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.512G>T (p.Trp171Leu)

dbSNP: rs2143677109
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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 RCV001366082 SCV001562373 uncertain significance Fanconi anemia 2020-07-26 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with FANCA-related conditions. This sequence change replaces tryptophan with leucine at codon 171 of the FANCA protein (p.Trp171Leu). The tryptophan residue is weakly conserved and there is a small physicochemical difference between tryptophan and leucine. This variant is not present in population databases (ExAC no frequency).

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