ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu)

dbSNP: rs121913471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038130 SCV000061796 uncertain significance not specified 2010-08-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. This variant ha s been observed as a somatic change in lung adenocarcinoma, gastric carcinoma, a nd adenocarcinoma of the rectum (Lee 2006, Bettitta 2006). Other amino acid chan ges (V777M, V777A) at this amino acid position have also been reported as somati c changes (COSMIC). In two individuals with colorecal cancer, a V777 mutation wa s coincidentally identified in a tumor with a G12D mutation in KRAS. The clinica l significance of this variant cannot be determined at this time.

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