ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.308_309del (p.Thr103fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003404251 SCV004103590 likely pathogenic IFT140-related disorder 2023-09-15 criteria provided, single submitter clinical testing The IFT140 c.308_309delCA variant is predicted to result in a frameshift and premature protein termination (p.Thr103Serfs*74). Large study assessing carrier variants for retinitis pigmentosa in genomic databases assessed this variant as likely pathogenic (Table S3, Hanany et al. 2020. PubMed ID: 31964843). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-1652430-CTG-C). Frameshift variants in IFT140 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005021939 SCV005645313 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-07 criteria provided, single submitter clinical testing

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