ClinVar Miner

Submissions for variant NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter)

dbSNP: rs1199919814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052184 SCV002318723 pathogenic Cold-induced sweating syndrome 1 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported to be associated with CRLF1 related disorder (PMID:24488861). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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