ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.1A>G (p.Met1Val)

dbSNP: rs387907107
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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 RCV001852564 SCV002238789 pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IFT43 mRNA. The next in-frame methionine is located at codon 22. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that disruption of the initiator codon affects IFT43 function (PMID: 21378380). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 31098). Disruption of the initiator codon has been observed in individuals with Sensenbrenner syndrome and short rib polydactyly syndrome (PMID: 21378380, 28400947, 29896747). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000024093 SCV000045384 pathogenic Cranioectodermal dysplasia 3 2011-06-01 no assertion criteria provided literature only
GeneReviews RCV000024093 SCV000087018 not provided Cranioectodermal dysplasia 3 no assertion provided literature only

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