ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002728328 SCV003559596 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1237C>T (p.H413Y) alteration is located in exon 8 (coding exon 7) of the PUM1 gene. This alteration results from a C to T substitution at nucleotide position 1237, causing the histidine (H) at amino acid position 413 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004731497 SCV005329099 likely benign Spinocerebellar ataxia 47; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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