ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.344del (p.Gly115fs)

dbSNP: rs587776709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995170 SCV001149205 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
3billion RCV002051906 SCV002318714 pathogenic Brain-lung-thyroid syndrome 2022-03-22 criteria provided, single submitter clinical testing 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. This variant has been reported as pathogenic (ClinVar ID: VCV000807109, PMID:30746413). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000043). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV002051906 SCV003935971 pathogenic Brain-lung-thyroid syndrome 2020-03-20 criteria provided, single submitter clinical testing

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