ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)

gnomAD frequency: 0.00001  dbSNP: rs770063294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292915 SCV001481611 uncertain significance Fanconi anemia complementation group L 2020-07-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863174 SCV002217680 uncertain significance Fanconi anemia 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 163 of the FANCL protein (p.Pro163Arg). This variant is present in population databases (rs770063294, gnomAD 0.02%). 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: 997630). 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: "Probably Damaging"; 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.

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