ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1475A>T (p.His492Leu)

dbSNP: rs925457555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468131 SCV000547745 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 492 of the FANCA protein (p.His492Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is not present in population databases (ExAC 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Leiden Open Variation Database RCV001256571 SCV001426055 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001256571 SCV001457951 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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