ClinVar Miner

Submissions for variant NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)

dbSNP: rs1555906768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656438 SCV000678325 likely pathogenic Intellectual disability 2017-01-01 criteria provided, single submitter research
GeneDx RCV003128633 SCV003806114 pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 176 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD and the published literature (Stenson et al., 2014; Basilicata et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30224647)
OMIM RCV000851338 SCV000993641 pathogenic Basilicata-Akhtar syndrome 2022-08-05 no assertion criteria provided literature only

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