ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.112-12C>T

gnomAD frequency: 0.00001  dbSNP: rs202104024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375614 SCV001572533 benign not specified 2024-09-22 criteria provided, single submitter clinical testing Variant summary: KRAS c.112-12C>T alters a conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.2e-05 in 1612992 control chromosomes. The observed variant frequency is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in KRAS causing Noonan Syndrome phenotype (1.3e-05). c.112-12C>T has been reported in the literature in individuals affected with Noonan Syndrome. These report(s) do not provide unequivocal conclusions about association of the variant with Noonan Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 1065170). Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002070252 SCV002477472 likely benign RASopathy 2024-01-24 criteria provided, single submitter clinical testing

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