ClinVar Miner

Submissions for variant NC_000018.9:g.77733765C>A

dbSNP: rs727502793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000149584 SCV002811698 likely pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2022-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003422037 SCV004117097 pathogenic TXNL4A-related disorder 2023-04-28 criteria provided, single submitter clinical testing The TXNL4A c.349G>T variant is predicted to result in premature protein termination (p.Glu117*). This variant was reported in the compound heterozygous state in two siblings with Burn-McKeown syndrome (Wieczorek et al 2014. PubMed ID: 25434003; Wieczorek D et al 2003. PubMed ID: 14564154). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in TXNL4A are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000149584 SCV000196560 pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2014-12-04 no assertion criteria provided literature only
GeneReviews RCV000149584 SCV000297981 not provided Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome no assertion provided literature only

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