ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4939C>G (p.Leu1647Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002735583 SCV003013830 likely benign not provided 2023-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004652033 SCV005142260 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.4939C>G (p.L1647V) alteration is located in exon 27 (coding exon 27) of the NOTCH3 gene. This alteration results from a C to G substitution at nucleotide position 4939, causing the leucine (L) at amino acid position 1647 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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