ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065459 SCV003458377 likely benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654119 SCV005142269 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.5942G>A (p.R1981H) alteration is located in exon 33 (coding exon 33) of the NOTCH3 gene. This alteration results from a G to A substitution at nucleotide position 5942, causing the arginine (R) at amino acid position 1981 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004540522 SCV004776510 uncertain significance NOTCH3-related disorder 2023-12-09 no assertion criteria provided clinical testing The NOTCH3 c.5942G>A variant is predicted to result in the amino acid substitution p.Arg1981His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-15272497-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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