ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.351A>G (p.Gln117=)

gnomAD frequency: 0.00011  dbSNP: rs375906347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312960 SCV000396065 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002521004 SCV003487135 uncertain significance not provided 2021-12-15 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 318555). This variant has not been reported in the literature in individuals affected with EARS2-related conditions. This variant is present in population databases (rs375906347, gnomAD 0.01%). This sequence change affects codon 117 of the EARS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EARS2 protein.

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