ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)

dbSNP: rs753472316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002241666 SCV002512091 pathogenic Acromesomelic dysplasia 1, Maroteaux type 2022-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770477 SCV004580563 pathogenic Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg767*) in the NPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPR2 are known to be pathogenic (PMID: 15146390, 15572448, 16384845). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with short stature (PMID: 34006472). ClinVar contains an entry for this variant (Variation ID: 998027). For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293708 SCV001482351 likely pathogenic Short stature with nonspecific skeletal abnormalities 2019-05-31 no assertion criteria provided research

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