ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.1613C>T (p.Ser538Phe)

dbSNP: rs767617636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898491 SCV002159688 uncertain significance Hereditary spastic paraplegia 73 2021-05-31 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 527 of the CPT1C protein (p.Ser527Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs767617636, ExAC 0.001%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CPT1C-related conditions.

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