ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)

gnomAD frequency: 0.00006  dbSNP: rs751516838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001141224 SCV001301553 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001338524 SCV001532197 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163312 SCV003893197 uncertain significance Cardiovascular phenotype 2022-12-31 criteria provided, single submitter clinical testing The p.A339S variant (also known as c.1015G>T), located in coding exon 8 of the JAG1 gene, results from a G to T substitution at nucleotide position 1015. The alanine at codon 339 is replaced by serine, 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.

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