ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)

gnomAD frequency: 0.00002  dbSNP: rs755792621
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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 RCV003637547 SCV004554091 uncertain significance Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 198 of the FANCL protein (p.Lys198Asn). This variant is present in population databases (rs755792621, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV004621891 SCV005113460 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.594G>C (p.K198N) alteration is located in exon 8 (coding exon 8) of the FANCL gene. This alteration results from a G to C substitution at nucleotide position 594, causing the lysine (K) at amino acid position 198 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038501 SCV005658691 uncertain significance Fanconi anemia complementation group L 2024-02-23 criteria provided, single submitter clinical testing

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