ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1190C>T (p.Pro397Leu)

gnomAD frequency: 0.00003  dbSNP: rs759329689
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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 RCV002040052 SCV002108710 uncertain significance Hereditary spastic paraplegia 48 2022-03-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 397 of the AP5Z1 protein (p.Pro397Leu). This variant is present in population databases (rs759329689, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of AP5Z1-related conditions (PMID: 31785789). 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: "Benign"; Align-GVGD: "Class C65"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693795 SCV005188414 uncertain significance not provided criteria provided, single submitter not provided

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