ClinVar Miner

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

dbSNP: rs142668269
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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 RCV001064370 SCV001229267 likely benign Saldino-Mainzer syndrome 2024-12-12 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: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV004753196 SCV005352943 uncertain significance IFT140-related disorder 2024-09-10 no assertion criteria provided clinical testing The IFT140 c.4159G>T variant is predicted to result in the amino acid substitution p.Val1387Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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