ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.1956G>A (p.Val652=)

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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 RCV003788561 SCV004570098 uncertain significance Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 2023-02-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with NPR2-related conditions. This variant is present in population databases (rs769661213, gnomAD 0.0009%). This sequence change affects codon 652 of the NPR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPR2 protein.

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