ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1678G>A (p.Ala560Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592203 SCV005081460 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004867935 SCV005513949 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.1543G>A (p.A515T) alteration is located in exon 10 (coding exon 9) of the ATP2B2 gene. This alteration results from a G to A substitution at nucleotide position 1543, causing the alanine (A) at amino acid position 515 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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