ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.913A>T (p.Met305Leu)

dbSNP: rs553742734
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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 RCV001886580 SCV002153103 uncertain significance Fanconi anemia 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 305 of the FANCL protein (p.Met305Leu). This variant is present in population databases (rs553742734, gnomAD 0.007%). 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: 1381209). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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 RCV002503471 SCV002796406 uncertain significance Fanconi anemia complementation group L 2022-03-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693858 SCV005187704 uncertain significance not provided criteria provided, single submitter not provided

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