ClinVar Miner

Submissions for variant NM_001897.5(CSPG4):c.2368G>C (p.Glu790Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004353713 SCV004081173 uncertain significance not specified 2023-07-05 criteria provided, single submitter clinical testing The c.2368G>C (p.E790Q) alteration is located in exon 3 (coding exon 3) of the CSPG4 gene. This alteration results from a G to C substitution at nucleotide position 2368, causing the glutamic acid (E) at amino acid position 790 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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