ClinVar Miner

Submissions for variant NM_001145308.4(LRTOMT):c.196C>G (p.Leu66Val) (rs876657864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222968 SCV000271960 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu66Val vari ant in LRTOMT has not been previously reported in individuals with hearing loss or in large population studies. Leucine (Leu) at position 66 is not conserved th rough species, with multiple birds and fish species having a valine (Val) at thi s position. Additional computational prediction tools suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Leu 66Val variant is uncertain, the lack of evolutionarily conservation suggests tha t it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000304430 SCV000373963 uncertain significance Deafness, autosomal recessive 63 2018-01-12 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.

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