ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn)

dbSNP: rs1781728649
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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 RCV001235865 SCV001408571 uncertain significance Hereditary spastic paraplegia 48 2019-11-08 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AP5Z1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 625 of the AP5Z1 protein (p.Asp625Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847201 SCV002106161 uncertain significance Hereditary spastic paraplegia 2021-10-08 criteria provided, single submitter clinical testing

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