ClinVar Miner

Submissions for variant NM_015198.5(COBL):c.3523G>C (p.Glu1175Gln)

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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 RCV004897335 SCV005557734 uncertain significance not specified 2024-08-26 criteria provided, single submitter clinical testing The c.3523G>C (p.E1175Q) alteration is located in exon 12 (coding exon 12) of the COBL gene. This alteration results from a G to C substitution at nucleotide position 3523, causing the glutamic acid (E) at amino acid position 1175 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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