ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)

gnomAD frequency: 0.00006  dbSNP: rs148373907
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389258 SCV000432886 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga) RCV000729052 SCV000856688 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214423 SCV001386105 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323546 SCV002605725 uncertain significance Cardiovascular phenotype 2024-03-08 criteria provided, single submitter clinical testing The p.V1115M variant (also known as c.3343G>A), located in coding exon 26 of the JAG1 gene, results from a G to A substitution at nucleotide position 3343. The valine at codon 1115 is replaced by methionine, an amino acid with highly 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.
CeGaT Center for Human Genetics Tuebingen RCV000729052 SCV004811380 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing JAG1: PP3

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