ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met)

gnomAD frequency: 0.00001  dbSNP: rs767997025
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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 RCV001919017 SCV002185376 likely benign Saldino-Mainzer syndrome 2024-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616865 SCV005121073 uncertain significance Inborn genetic diseases 2024-04-27 criteria provided, single submitter clinical testing The c.3704C>T (p.T1235M) alteration is located in exon 28 (coding exon 26) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 3704, causing the threonine (T) at amino acid position 1235 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006215 SCV005642715 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-13 criteria provided, single submitter clinical testing

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