ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)

gnomAD frequency: 0.00015  dbSNP: rs202129528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036582 SCV001199955 likely benign Saldino-Mainzer syndrome 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489544 SCV002780275 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552463 SCV003687079 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.4205T>C (p.M1402T) alteration is located in exon 31 (coding exon 29) of the IFT140 gene. This alteration results from a T to C substitution at nucleotide position 4205, causing the methionine (M) at amino acid position 1402 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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