ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)

gnomAD frequency: 0.00004  dbSNP: rs775046032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244455 SCV002513132 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing 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
Baylor Genetics RCV003333211 SCV004041014 uncertain significance Perrault syndrome 5 2023-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333209 SCV004041046 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 2023-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333210 SCV004041080 uncertain significance Infantile onset spinocerebellar ataxia 2023-05-09 criteria provided, single submitter clinical testing

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