ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)

dbSNP: rs1767156443
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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 RCV001318753 SCV001509466 uncertain significance Fanconi anemia complementation group E 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 50 of the FANCE protein (p.Leu50Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002543757 SCV003617354 uncertain significance Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing The c.149T>C (p.L50P) alteration is located in exon 1 (coding exon 1) of the FANCE gene. This alteration results from a T to C substitution at nucleotide position 149, causing the leucine (L) at amino acid position 50 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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