ClinVar Miner

Submissions for variant NM_001684.5(ATP2B4):c.1820G>A (p.Arg607Gln)

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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 RCV004249289 SCV003874127 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.1820G>A (p.R607Q) alteration is located in exon 12 (coding exon 11) of the ATP2B4 gene. This alteration results from a G to A substitution at nucleotide position 1820, causing the arginine (R) at amino acid position 607 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003954065 SCV004770818 likely benign ATP2B4-related disorder 2023-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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