ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003016365 SCV003308317 pathogenic Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2023-04-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr808*) 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 has not been reported in the literature in individuals affected with NPR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2096788). For these reasons, this variant has been classified as Pathogenic.

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