ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu)

gnomAD frequency: 0.00012  dbSNP: rs377677067
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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 RCV001312773 SCV001503241 uncertain significance Cataract 18 2020-10-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FYCO1-related conditions. 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. 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"). This sequence change replaces proline with leucine at codon 1275 of the FYCO1 protein (p.Pro1275Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV002545050 SCV003621486 uncertain significance Inborn genetic diseases 2021-11-22 criteria provided, single submitter clinical testing The c.3824C>T (p.P1275L) alteration is located in exon 14 (coding exon 13) of the FYCO1 gene. This alteration results from a C to T substitution at nucleotide position 3824, causing the proline (P) at amino acid position 1275 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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