ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.39C>T (p.Gly13=) (rs397517040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038271 SCV000061940 likely pathogenic Non-small cell lung cancer 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

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