ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)

dbSNP: rs80338936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000020897 SCV002521525 pathogenic Charcot-Marie-Tooth disease type 4C 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: 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. The variant has been reported to be associated with SH3TC2 related disorder (ClinVar ID: VCV000021699 / PMID: 14574644). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneReviews RCV000020897 SCV000041496 not provided Charcot-Marie-Tooth disease type 4C no assertion provided literature only

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