ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.1215del (p.Gln406fs)

dbSNP: rs1828107536
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Total submissions: 1
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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 RCV001264761 SCV001250610 pathogenic Acromesomelic dysplasia 1, Maroteaux type 2020-05-02 criteria provided, single submitter clinical testing Two unrelated patients with typical findings of Acromesomelic dysplasia Maroteaux type were determined to have a homozygous frameshift variant (c.1215delT, p.Gln406SerfsTer23) in NPR2, resulting in a premature stop codon of the protein sequence. The consanguineous parents were heterozygous carriers of this variant. This variant is not present in gnomAD and ExAC databases. This variant was classified as pathogenic based on ACMG variant classification guidelines.

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