ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys)

gnomAD frequency: 0.00003  dbSNP: rs782683285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Biochemistry, Faculty of Medicine, University of Khartoum RCV001352913 SCV001547518 uncertain significance X-linked progressive cerebellar ataxia 2021-03-25 criteria provided, single submitter research Using whole-exome sequencing and Sanger sequencing we identified the variant NM_021949.3(ATP2B3):c.2086C>T (p.Arg696Cys) in a male patient with intellectual disability and spasticity. The variant was absent in his father and heterozygous in his mother. It was reported once in the gnomAD v2.1.1 database; heterozygous in an African\African American female. Nevertheless, NM_021949.3(ATP2B3):c.2086C>T (p.Arg696Cys) had an allelic variant, NM_021949.3 (ATP2B3):c.2086C>A (p.Arg696Ser) reported in four females and one male from gnomAD v2.1.1 Latino/Admixed American population (its gnomAD v2.1.1 global frequency was 0.00002). The variant NM_021949.3(ATP2B3):c.2086C>T (p.Arg696Cys) alters a highly conserved amino acid located in the ATPase domain of the ATP2B3 protein. It was predicted by multiple in silico tools including Sift, Polyphen 2, MutationTaster, LRT, and Provean.
Ambry Genetics RCV002547572 SCV003685743 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.2086C>T (p.R696C) alteration is located in exon 12 (coding exon 12) of the ATP2B3 gene. This alteration results from a C to T substitution at nucleotide position 2086, causing the arginine (R) at amino acid position 696 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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