ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.760T>C (p.Tyr254His)

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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 RCV003075903 SCV003472917 uncertain significance Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 254 of the NPR2 protein (p.Tyr254His). This variant is not present in population databases (gnomAD no frequency). 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: 2160347). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NPR2 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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