ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.352+1G>T

gnomAD frequency: 0.00009  dbSNP: rs780659194
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Total submissions: 4
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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 RCV000757977 SCV000839872 pathogenic Bardet-Biedl syndrome 2018-09-15 criteria provided, single submitter clinical testing Mutation affecting splicing (functional study in submitter's publication)
Invitae RCV001035042 SCV001198350 pathogenic not provided 2024-01-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the IFT27 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs780659194, gnomAD 0.02%). Disruption of this splice site has been observed in individual(s) with clinical features of IFT27-related conditions (PMID: 29704304, 30761183). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.352+1G>T. ClinVar contains an entry for this variant (Variation ID: 585274). Studies have shown that disruption of this splice site results in skipping of exons 4-5 and 4-6, but is expected to preserve the integrity of the reading-frame (PMID: 30761183). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003392548 SCV004120120 likely pathogenic IFT27-related condition 2022-10-20 criteria provided, single submitter clinical testing The IFT27 c.349+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. On an alternate transcript (NM_001177701.2), this variant is referred to as c.352+1G>T. This variant was reported in the compound heterozygous state in two individuals with features consistent with Bardet-Biedl syndrome (Schaefer et al. 2019. PubMed ID: 30761183; Quélin et al. 2018. PubMed ID: 29704304). This variant is reported in 0.019% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-37159962-C-A). Variants that disrupt the consensus splice donor site in IFT27 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
OMIM RCV001537637 SCV001754537 pathogenic Bardet-Biedl syndrome 19 2021-07-16 no assertion criteria provided literature only

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