ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.874G>A (p.Val292Met)

dbSNP: rs431905521
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000626469 SCV000746996 pathogenic Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2018-01-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004579537 SCV005062138 pathogenic Retinitis pigmentosa 2024-03-29 criteria provided, single submitter clinical testing Variant summary: IFT140 c.874G>A (p.Val292Met) results in a conservative amino acid change located in the WD40/YVTN repeat-like-containing domain superfamily (IPR015943) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249478 control chromosomes (gnomAD). c.874G>A has been reported in the literature in multiple individuals affected with IFT140 related disorders (examples: Perrault_2012, Schmidts_2013, Dineiro_2020). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 32483926, 22503633, 23418020). ClinVar contains an entry for this variant (Variation ID: 97053). Based on the evidence outlined above, the variant was classified as pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815018 SCV005069854 likely pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016363 SCV005638746 pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-01 criteria provided, single submitter clinical testing
OMIM RCV000083297 SCV000115377 pathogenic Saldino-Mainzer syndrome 2013-05-01 no assertion criteria provided literature only
Dan Cohn Lab, University Of California Los Angeles RCV000515922 SCV000612043 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515922 SCV001479396 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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