ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469638 SCV002765423 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003289515 SCV003956999 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.2542C>G (p.Q848E) alteration is located in exon 16 (coding exon 16) of the NOTCH3 gene. This alteration results from a C to G substitution at nucleotide position 2542, causing the glutamine (Q) at amino acid position 848 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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