ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1465C>T (p.Pro489Ser)

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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 RCV004907556 SCV005579130 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.1465C>T (p.P489S) alteration is located in exon 12 (coding exon 12) of the ERBB2 gene. This alteration results from a C to T substitution at nucleotide position 1465, causing the proline (P) at amino acid position 489 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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