ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)

dbSNP: rs201941745
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119623 SCV001278050 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 RCV000676421 SCV002450132 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Mendelics RCV002249401 SCV002517000 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531380 SCV003532867 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.209G>T (p.S70I) alteration is located in exon 2 (coding exon 2) of the EARS2 gene. This alteration results from a G to T substitution at nucleotide position 209, causing the serine (S) at amino acid position 70 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000676421 SCV000802199 uncertain significance not provided 2016-03-11 no assertion criteria provided clinical testing

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