ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1520A>G (p.Asn507Ser)

gnomAD frequency: 0.00006  dbSNP: rs1555599849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617699 SCV000736559 uncertain significance Cardiovascular phenotype 2022-06-16 criteria provided, single submitter clinical testing The p.N507S variant (also known as c.1520A>G), located in coding exon 8 of the JUP gene, results from an A to G substitution at nucleotide position 1520. The asparagine at codon 507 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001770547 SCV002003595 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 518905; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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