ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)

gnomAD frequency: 0.00001  dbSNP: rs376151586
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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 RCV001238483 SCV001411297 likely benign Saldino-Mainzer syndrome 2024-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480779 SCV002780450 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263877 SCV003966915 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.3989C>T (p.A1330V) alteration is located in exon 29 (coding exon 27) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 3989, causing the alanine (A) at amino acid position 1330 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003456484 SCV004184496 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing IFT140: PM5, BP4

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