ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met)

gnomAD frequency: 0.00006  dbSNP: rs756182519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001162657 SCV001324618 uncertain significance Hereditary spastic paraplegia 48 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001162657 SCV003499111 uncertain significance Hereditary spastic paraplegia 48 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 202 of the AP5Z1 protein (p.Thr202Met). This variant is present in population databases (rs756182519, gnomAD 0.1%). 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: 910689). 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"). 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.
Ambry Genetics RCV004032864 SCV004908281 uncertain significance Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.605C>T (p.T202M) alteration is located in exon 5 (coding exon 5) of the AP5Z1 gene. This alteration results from a C to T substitution at nucleotide position 605, causing the threonine (T) at amino acid position 202 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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