ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln)

dbSNP: rs1557804894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728854 SCV000856472 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535096 SCV003585756 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.5172C>G (p.H1724Q) alteration is located in exon 28 (coding exon 28) of the NOTCH2 gene. This alteration results from a C to G substitution at nucleotide position 5172, causing the histidine (H) at amino acid position 1724 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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