ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)

gnomAD frequency: 0.00006  dbSNP: rs370814108
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326494 SCV000359943 uncertain significance Infantile onset spinocerebellar ataxia 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.
Illumina Laboratory Services, Illumina RCV000381173 SCV000359944 benign Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000267823 SCV000359945 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000322888 SCV000359946 uncertain significance Autosomal recessive cerebellar ataxia 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.
Athena Diagnostics RCV000712523 SCV000843029 uncertain significance not provided 2017-12-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001838991 SCV002099319 uncertain significance Infantile onset spinocerebellar ataxia; Perrault syndrome 5 2021-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712523 SCV002429685 benign not provided 2023-09-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000326494 SCV005049370 uncertain significance Infantile onset spinocerebellar ataxia 2024-02-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000267823 SCV005049444 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 2024-02-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV004558440 SCV005049496 uncertain significance Perrault syndrome 5 2024-02-13 criteria provided, single submitter clinical testing

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