ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)

gnomAD frequency: 0.00004  dbSNP: rs562519835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062022 SCV001226791 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320317 SCV002628880 uncertain significance Inborn genetic diseases 2019-09-27 criteria provided, single submitter clinical testing The p.A136V variant (also known as c.407C>T), located in coding exon 5 of the ATP13A2 gene, results from a C to T substitution at nucleotide position 407. The alanine at codon 136 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792700 SCV005409165 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing BP4_moderate

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