ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val)

gnomAD frequency: 0.00002  dbSNP: rs576401459
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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 RCV001338765 SCV001532459 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1230 of the FANCA protein (p.Leu1230Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs576401459, ExAC 0.01%). This missense change has been observed in individual(s) with breast cancer (PMID: 30086788). 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.
Natera, Inc. RCV001338765 SCV002092508 uncertain significance Fanconi anemia 2020-06-06 no assertion criteria provided clinical testing

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