ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)

gnomAD frequency: 0.00004  dbSNP: rs368170054
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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 RCV001924051 SCV002206429 uncertain significance Fanconi anemia 2023-04-14 criteria provided, single submitter clinical testing 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 expected to disrupt FANCF protein function. ClinVar contains an entry for this variant (Variation ID: 1424808). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (rs368170054, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 350 of the FANCF protein (p.Leu350Phe).
Ambry Genetics RCV002560472 SCV003531508 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.1048C>T (p.L350F) alteration is located in exon 1 (coding exon 1) of the FANCF gene. This alteration results from a C to T substitution at nucleotide position 1048, causing the leucine (L) at amino acid position 350 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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