ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup)

dbSNP: rs2100654427
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983199 SCV002242225 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-10-12 criteria provided, single submitter clinical testing This variant, c.3041_3043dup, results in the insertion of 1 amino acid(s) to the ATP13A2 protein (p.Gly1014dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Kufor-Rakeb syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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.

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