ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser)

gnomAD frequency: 0.00004  dbSNP: rs756787187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657990 SCV000779761 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing The G537S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 2/15304 (0.0131%) alleles from individuals of African background (Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001352536 SCV001547097 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-06 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000657990 SCV002501292 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388163 SCV002703701 uncertain significance Cardiovascular phenotype 2021-10-21 criteria provided, single submitter clinical testing The p.G537S variant (also known as c.1609G>A), located in coding exon 13 of the JAG1 gene, results from a G to A substitution at nucleotide position 1609. The glycine at codon 537 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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