ClinVar Miner

Submissions for variant NM_018946.4(NANS):c.256C>T (p.Arg86Ter)

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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 RCV005064171 SCV005692844 pathogenic not provided 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg86*) in the NANS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NANS are known to be pathogenic (PMID: 27213289). This variant is present in population databases (rs752343283, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with NANS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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