ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)

dbSNP: rs751324720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV001261881 SCV001245053 likely pathogenic Acromesomelic dysplasia 1, Maroteaux type 2020-04-27 criteria provided, single submitter clinical testing Two affected siblings with short-limbed short stature were assessed for mutations in the NPR2 gene and a homozygous variant NM_003995.4: c.1673T>C (p.Ile558Thr) in NPR2 was detected using gene sequencing. This variant has been previously described in patients with familiar short stature and heterozygous NPR2 variants have been reported to be associated with short stature (Plachy et al., 2020). Furthermore, this variant is classified as likely pathogenic according to the ACMG guidelines.
Invitae RCV001302840 SCV001492064 uncertain significance Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2021-08-26 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001261881 SCV002546518 likely pathogenic Acromesomelic dysplasia 1, Maroteaux type 2022-06-07 criteria provided, single submitter research

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