ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.2T>A (p.Met1Lys)

gnomAD frequency: 0.00001  dbSNP: rs769724508
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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 RCV001206016 SCV001377303 pathogenic not provided 2019-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed to segregate with short rib polydactyly syndrome and cranioectodermal dysplasia in families (PMID: 28400947, 21378380). ClinVar contains an entry for this variant (Variation ID: 488649). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the IFT43 mRNA. The next in-frame methionine is located at codon 22.
OMIM RCV000578472 SCV000680462 pathogenic Short-rib thoracic dysplasia 18 with polydactyly 2018-02-05 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851214 SCV000993465 likely pathogenic Short rib-polydactyly syndrome 2017-03-30 no assertion criteria provided research

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