ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003010751 SCV003709086 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The c.472G>T (p.A158S) alteration is located in exon 3 (coding exon 3) of the ATP2B3 gene. This alteration results from a G to T substitution at nucleotide position 472, causing the alanine (A) at amino acid position 158 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003649419 SCV004563378 uncertain significance X-linked progressive cerebellar ataxia 2023-11-03 criteria provided, single submitter clinical testing

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