ClinVar Miner

Submissions for variant NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)

dbSNP: rs1951433087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001254927 SCV001364376 likely pathogenic Hypertelorism; Cleft lip/palate; Abnormal pinna morphology; Tethered cord; Long fingers; imperforate anus with fistula 2019-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001863069 SCV002252531 pathogenic not provided 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 160 of the AMOTL1 protein (p.Pro160Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of AMOTL1-related conditions (PMID: 33026150, 36751037; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 929484). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001863069 SCV003805326 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient with cleft lip and palate, imperforate anus, and dysmorphic features in the published literature (Rips et al., 2021); Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 33026150)

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