ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.267G>T (p.Met89Ile)

dbSNP: rs1378650753
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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 RCV001222772 SCV001394888 uncertain significance Fanconi anemia 2022-01-28 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 950949). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 89 of the FANCL protein (p.Met89Ile).

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