ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe)

gnomAD frequency: 0.00009  dbSNP: rs937871148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517297 SCV000614298 likely benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527500 SCV003715600 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.4046C>T (p.S1349F) alteration is located in exon 24 (coding exon 24) of the NOTCH3 gene. This alteration results from a C to T substitution at nucleotide position 4046, causing the serine (S) at amino acid position 1349 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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