ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)

gnomAD frequency: 0.00001  dbSNP: rs2046938247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334449 SCV001527300 uncertain significance Myofibromatosis, infantile, 2 2018-03-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035779 SCV004990219 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.214G>A (p.V72M) alteration is located in exon 3 (coding exon 3) of the NOTCH3 gene. This alteration results from a G to A substitution at nucleotide position 214, causing the valine (V) at amino acid position 72 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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