ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val)

gnomAD frequency: 0.00002  dbSNP: rs201181229
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387987 SCV000396052 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.
Baylor Genetics RCV000387987 SCV001523663 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-01-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003151767 SCV003840680 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen RCV003151767 SCV004701763 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing EARS2: PM2, BP4

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