ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)

gnomAD frequency: 0.00024  dbSNP: rs141471091
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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 RCV001053133 SCV001217379 likely benign Saldino-Mainzer syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481974 SCV002797122 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553308 SCV003752068 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.3173T>C (p.L1058S) alteration is located in exon 25 (coding exon 23) of the IFT140 gene. This alteration results from a T to C substitution at nucleotide position 3173, causing the leucine (L) at amino acid position 1058 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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