ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)

gnomAD frequency: 0.00001  dbSNP: rs377429618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215886 SCV001387654 uncertain significance Fanconi anemia 2024-01-18 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 134 of the FANCL protein (p.Ser134Ile). This variant is present in population databases (rs377429618, gnomAD 0.002%). 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: 945282). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FANCL protein function. 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 RCV002484176 SCV002789563 uncertain significance Fanconi anemia complementation group L 2022-05-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV002484176 SCV003836206 uncertain significance Fanconi anemia complementation group L 2021-02-11 criteria provided, single submitter clinical testing

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