ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.809G>A (p.Gly270Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005059579 SCV005721417 uncertain significance not provided 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 270 of the NBAS protein (p.Gly270Asp). This variant is present in population databases (rs776010451, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NBAS-related conditions. 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 expected to disrupt NBAS protein function with a positive predictive value of 95%. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817537 SCV005073623 uncertain significance Optic atrophy 2021-01-01 no assertion criteria provided clinical testing

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