ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)

gnomAD frequency: 0.00032  dbSNP: rs547860186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312397 SCV000846711 uncertain significance Inborn genetic diseases 2016-07-08 criteria provided, single submitter clinical testing The p.G1177S variant (also known as c.3529G>A), located in coding exon 29 of the ATP13A2 gene, results from a G to A substitution at nucleotide position 3529. The glycine at codon 1177 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878446 SCV001021355 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV002279497 SCV002567553 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004547892 SCV004788827 likely benign ATP13A2-related disorder 2020-10-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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