ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)

dbSNP: rs1564492117
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680095 SCV000807536 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our in trans with another variant in an 8-year-old male with speech delay, regression, hypotonia, ataxia, progressive muscle weakness, fatigue

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