ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)

gnomAD frequency: 0.00010  dbSNP: rs371069660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474849 SCV000548931 likely benign Adams-Oliver syndrome 5 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313168 SCV000739385 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-03 criteria provided, single submitter clinical testing The p.R2313Q variant (also known as c.6938G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6938. The arginine at codon 2313 is replaced by glutamine, an amino acid with highly similar properties. This alteration was reported in an individual with hypoplastic left heart syndrome and classified as variant of unknown significance (Kerstjens-Frederikse WS et al. Genet. Med., 2016 Sep;18:914-23). This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other vertebrate species. 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.
GeneDx RCV001546211 SCV001765690 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32361481, 26820064)
Molecular Genetics, Royal Melbourne Hospital RCV003993971 SCV004812741 uncertain significance Aortic valve disease 1 2023-09-04 criteria provided, single submitter clinical testing

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