ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2067+5G>A

gnomAD frequency: 0.00007  dbSNP: rs370629233
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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 RCV001337739 SCV001531352 uncertain significance Saldino-Mainzer syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the IFT140 gene. It does not directly change the encoded amino acid sequence of the IFT140 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370629233, gnomAD 0.04%). This variant has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1034941). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003159201 SCV003852898 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005005833 SCV005642818 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-26 criteria provided, single submitter clinical testing

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