ClinVar Miner

Submissions for variant NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)

dbSNP: rs1555907620
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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 RCV000656440 SCV000678327 likely pathogenic Intellectual disability 2017-01-01 criteria provided, single submitter research
GeneDx RCV003128634 SCV003806000 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33173220, 30224647)
OMIM RCV000851340 SCV000993643 pathogenic Basilicata-Akhtar syndrome 2022-08-05 no assertion criteria provided literature only

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