ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys)

gnomAD frequency: 0.00012  dbSNP: rs186236478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878108 SCV001020959 likely benign Short-rib thoracic dysplasia 11 with or without polydactyly 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV002462211 SCV002757578 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Identified in the heterozygous state in a fetus with anencephaly (Yin et al., 2020); Published functional studies suggest a damaging effect (decreased activation of the SHH pathway) (Yin et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32576942)
PreventionGenetics, part of Exact Sciences RCV003948266 SCV004767575 likely benign DYNC2I2-related disorder 2020-08-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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