ClinVar Miner

Submissions for variant NM_018063.5(HELLS):c.370+2T>A

gnomAD frequency: 0.00001  dbSNP: rs140316223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515602 SCV003439650 pathogenic not provided 2023-03-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 225524). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 5 and introduces a premature termination codon (PMID: 26216346). The resulting mRNA is expected to undergo nonsense-mediated decay. Disruption of this splice site has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 26216346). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs140316223, gnomAD 0.002%). This sequence change affects a donor splice site in intron 5 of the HELLS gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
OMIM RCV000210918 SCV000267577 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4 2016-04-21 no assertion criteria provided literature only

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