ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)

gnomAD frequency: 0.00002  dbSNP: rs200201752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188216 SCV000241823 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing Reported in a patient with a neurodevelopmental disorder (Lindy et al., 2018); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29655203)
Invitae RCV000707280 SCV000836370 uncertain significance Lafora disease 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 381 of the NHLRC1 protein (p.Asp381Gly). This variant is present in population databases (rs200201752, gnomAD 0.004%). This missense change has been observed in individual(s) with NHLRC1-related conditions (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 206192). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NHLRC1 protein function. 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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