Submissions for variant NM_004985.5(KRAS):c.39C>T (p.Gly13=)

dbSNP: rs397517040

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038271	SCV000061940	likely pathogenic	Non-small cell lung carcinoma	2011-10-12	criteria provided, single submitter	clinical testing	DNA sequencing of KRAS identified the variants listed above. From this test, we are unable to determine if these variants occur on the same chromosome (in cis) or on different chromosomes (in trans; as listed above). The Gly13Val variant h as been reported in 1 lung adenocarcinoma that did not respond to TKI treatment (Marchetti 2009; COSMIC). The Gly13Gly variant has not been reported in a lung t umor, but has been seen in several other tumor sites, including pancreas and lar ge intestine (COSMIC). If the two variants occur on the same chromosome (in cis) , the resulting variant would be 38_39delinsTT (Gly13Val), which has been previo usly identified in 2 lung carcinomas (COSMIC). Somatic KRAS variants have been a ssociated with resistance to EGFR TKIs (Pao 2005).
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357774	SCV001553344	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca	RCV002291551	SCV002584839	uncertain significance	Prostate cancer, hereditary, 1	2022-07-29	no assertion criteria provided	clinical testing