ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)

gnomAD frequency: 0.00005  dbSNP: rs377186549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316090 SCV000847602 uncertain significance Inborn genetic diseases 2016-08-19 criteria provided, single submitter clinical testing The p.C401Y variant (also known as c.1202G>A), located in coding exon 13 of the ATP13A2 gene, results from a G to A substitution at nucleotide position 1202. The cysteine at codon 401 is replaced by tyrosine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477656 SCV002785014 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477656 SCV002984426 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-09-04 criteria provided, single submitter clinical testing

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