ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe)

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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 RCV003063196 SCV003454971 uncertain significance Hereditary spastic paraplegia 48 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 590 of the AP5Z1 protein (p.Leu590Phe). 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 variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Ambry Genetics RCV004642121 SCV005140531 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.1768C>T (p.L590F) alteration is located in exon 14 (coding exon 14) of the AP5Z1 gene. This alteration results from a C to T substitution at nucleotide position 1768, causing the leucine (L) at amino acid position 590 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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