ClinVar Miner

Submissions for variant NM_015198.5(COBL):c.2258C>G (p.Ser753Cys)

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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 RCV004897327 SCV005557725 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The c.2258C>G (p.S753C) alteration is located in exon 10 (coding exon 10) of the COBL gene. This alteration results from a C to G substitution at nucleotide position 2258, causing the serine (S) at amino acid position 753 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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