ClinVar Miner

Submissions for variant NM_005173.4(ATP2A3):c.2770C>T (p.Arg924Trp)

gnomAD frequency: 0.00028  dbSNP: rs199574831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935234 SCV001080976 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678869 SCV005174140 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing The c.2770C>T (p.R924W) alteration is located in exon 19 (coding exon 19) of the ATP2A3 gene. This alteration results from a C to T substitution at nucleotide position 2770, causing the arginine (R) at amino acid position 924 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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