ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)

gnomAD frequency: 0.00016  dbSNP: rs146546770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001337490 SCV001531093 likely benign Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035835 SCV004992508 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.3119G>A (p.R1040Q) alteration is located in exon 22 (coding exon 22) of the NPR2 gene. This alteration results from a G to A substitution at nucleotide position 3119, causing the arginine (R) at amino acid position 1040 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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