ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)

dbSNP: rs376224867
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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 RCV001365311 SCV001561577 uncertain significance Fanconi anemia 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 7 of the FANCL protein (p.Ser7Ile). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 1056471). 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.
Fulgent Genetics, Fulgent Genetics RCV002493866 SCV002781732 uncertain significance Fanconi anemia complementation group L 2021-07-15 criteria provided, single submitter clinical testing

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