ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)

gnomAD frequency: 0.00001  dbSNP: rs1321926273
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Total submissions: 5
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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 RCV001175593 SCV001339238 uncertain significance not specified 2020-10-01 criteria provided, single submitter clinical testing Variant summary: SOS1 c.2990T>C (p.Met997Thr) results in a non-conservative amino acid change located in the Ras guanine-nucleotide exchange factors catalytic domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250344 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2990T>C in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001364823 SCV001561005 likely benign RASopathy 2023-11-07 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245865 SCV002512473 uncertain significance Noonan syndrome 4 2021-11-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting
Genome-Nilou Lab RCV002245865 SCV002763253 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468183 SCV002763254 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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