ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup)

dbSNP: rs746548308
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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 RCV000794268 SCV000933663 uncertain significance Hereditary spastic paraplegia 48 2024-01-25 criteria provided, single submitter clinical testing This variant, c.2105_2116dup, results in the insertion of 4 amino acid(s) of the AP5Z1 protein (p.Met702_Leu705dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746548308, gnomAD 0.01%). 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: 641106). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849098 SCV002106174 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing

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