ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)

dbSNP: rs142668269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064370 SCV001229267 likely benign Saldino-Mainzer syndrome 2023-09-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489684 SCV002786862 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243459 SCV003937348 likely benign Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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