ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)

gnomAD frequency: 0.00001  dbSNP: rs587777096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730552 SCV000858298 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083288 SCV003452060 pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 393 of the WDR34 protein (p.Gly393Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with short-rib thoracic dysplasia (PMID: 24183451, 29068549). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 97042). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects WDR34 function (PMID: 32576942). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000083288 SCV000115368 pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly 2013-11-07 no assertion criteria provided literature only
Dan Cohn Lab, University Of California Los Angeles RCV000515829 SCV000612028 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515829 SCV001479905 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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