ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser)

gnomAD frequency: 0.00008  dbSNP: rs201682318
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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 RCV001034979 SCV001198283 uncertain significance Hereditary spastic paraplegia 48 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 803 of the AP5Z1 protein (p.Gly803Ser). This variant is present in population databases (rs201682318, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. ClinVar contains an entry for this variant (Variation ID: 834321). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001034979 SCV001524066 uncertain significance Hereditary spastic paraplegia 48 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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