ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1942G>A (p.Val648Ile) (rs77711105)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000014976 SCV000190518 uncertain significance Multiple endocrine neoplasia, type 2a 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Ambry Genetics RCV000163319 SCV000213847 benign Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV001082776 SCV000253560 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000163319 SCV000267089 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000442648 SCV000521037 likely benign not specified 2017-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000014976 SCV000785294 uncertain significance Multiple endocrine neoplasia, type 2a 2017-06-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000034767 SCV000807016 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Mendelics RCV000014976 SCV000838392 likely benign Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
OMIM RCV000014976 SCV000035232 pathogenic Multiple endocrine neoplasia, type 2a 2002-12-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034767 SCV000043473 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Research and Development, ARUP Laboratories RCV000442648 SCV000055377 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only First family report, two with mutation genotype: one C-cell hyperplasia, other no disease (PMID 21810974). In vitro studies: PMID 21810974. Three unrelated French individual reports: MTC at 21yr, 65 yr, and 68 yr (PMID 28946813). Described as likely benign. Second family report, 2 with the variant genotype: asymptomatic (22 and 37 yr, PMID 18209889). Third family report, 6 with the variant genotype: one had surgery at 52 yr, no MTC (PMID 26247112). In these last two families, p.V648I was also found in trans with other RET changes, see c.[1900T>C];[1942G>A] and c.[1942G>A];[2410G>C].
Research and Development, ARUP Laboratories RCV000021834 SCV000055378 uncertain MEN2 phenotype: Unknown 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Uncertain significance.

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