ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)

gnomAD frequency: 0.00001  dbSNP: rs769045045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647235 SCV001519192 likely pathogenic Pontocerebellar hypoplasia type 6 2021-07-12 criteria provided, single submitter research
Invitae RCV002546250 SCV003025213 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 173 of the RARS2 protein (p.Asp173Asn). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1027513). 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 RARS2 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV001647235 SCV003836444 uncertain significance Pontocerebellar hypoplasia type 6 2022-05-18 criteria provided, single submitter clinical testing

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