ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.506C>T (p.Thr169Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914086 SCV003259215 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066257 SCV003742083 uncertain significance Cardiovascular phenotype 2023-10-08 criteria provided, single submitter clinical testing The p.T169M variant (also known as c.506C>T), located in coding exon 4 of the JAG1 gene, results from a C to T substitution at nucleotide position 506. The threonine at codon 169 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004548405 SCV004795664 uncertain significance JAG1-related disorder 2024-02-15 no assertion criteria provided clinical testing The JAG1 c.506C>T variant is predicted to result in the amino acid substitution p.Thr169Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. 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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