ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)

gnomAD frequency: 0.00005  dbSNP: rs769688455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003492849 SCV004236514 uncertain significance Spinocerebellar ataxia 47 2023-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003190576 SCV003880010 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.1297G>A (p.A433T) alteration is located in exon 9 (coding exon 8) of the PUM1 gene. This alteration results from a G to A substitution at nucleotide position 1297, causing the alanine (A) at amino acid position 433 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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