ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.335C>T (p.Ser112Leu)

gnomAD frequency: 0.00006  dbSNP: rs756590256
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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 RCV000691544 SCV000819329 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 112 of the FANCL protein (p.Ser112Leu). This variant is present in population databases (rs756590256, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 570640). 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. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692115 SCV005187705 uncertain significance not provided criteria provided, single submitter not provided

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