ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)

gnomAD frequency: 0.00011  dbSNP: rs146480546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057154 SCV001221631 likely benign Saldino-Mainzer syndrome 2024-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489647 SCV002776176 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553366 SCV003725097 uncertain significance Inborn genetic diseases 2022-07-07 criteria provided, single submitter clinical testing The c.1861C>T (p.R621W) alteration is located in exon 16 (coding exon 14) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 1861, causing the arginine (R) at amino acid position 621 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV005093345 SCV005848397 uncertain significance not provided 2024-08-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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