ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn)

gnomAD frequency: 0.00001  dbSNP: rs760908627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315074 SCV000739391 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-18 criteria provided, single submitter clinical testing The p.D1021N variant (also known as c.3061G>A), located in coding exon 19 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3061. The aspartic acid at codon 1021 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine is the reference amino acid in other 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531839 SCV003292983 likely benign Adams-Oliver syndrome 5 2024-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533286 SCV004117782 uncertain significance NOTCH1-related disorder 2023-09-08 criteria provided, single submitter clinical testing The NOTCH1 c.3061G>A variant is predicted to result in the amino acid substitution p.Asp1021Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139403432-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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