ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)

gnomAD frequency: 0.00001  dbSNP: rs1337206941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138227 SCV001298263 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856770 SCV002134337 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032320 SCV003735138 uncertain significance Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing The c.1659G>T (p.E553D) alteration is located in exon 13 (coding exon 13) of the JAG1 gene. This alteration results from a G to T substitution at nucleotide position 1659, causing the glutamic acid (E) at amino acid position 553 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004548013 SCV004116869 uncertain significance JAG1-related disorder 2024-04-11 no assertion criteria provided clinical testing The JAG1 c.1659G>T variant is predicted to result in the amino acid substitution p.Glu553Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino 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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