ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)

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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 RCV002914223 SCV003257482 uncertain significance Fanconi anemia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1398 of the FANCA protein (p.Lys1398Arg). 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. 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 FANCA protein function. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).
Ambry Genetics RCV002914224 SCV003629412 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The c.4193A>G (p.K1398R) alteration is located in exon 42 (coding exon 42) of the FANCA gene. This alteration results from a A to G substitution at nucleotide position 4193, causing the lysine (K) at amino acid position 1398 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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