ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)

gnomAD frequency: 0.00001  dbSNP: rs758699499
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000589437 SCV000344629 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589437 SCV000698619 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The SOS1 c.1820T>C (p.Ile607Thr) variant causes a missense change involving a highly conserved nucleotide with 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a benign outcome, although these predictions have yet to be functionally assessed. This variant was observed in the large, broad control population, ExAC, with an allele frequency of 2/120916 (1/60458, frequency: 0.0000165), which does not exceed the estimated maximal expected allele frequency for a pathogenic SOS1 variant of 1/33333(0.00003) but does not rule out a possibility for it to be a rare functional polymorphism. The fact that c.1820T>C co-occurred with a known pathogenic variant in PTPN1 gene suggest a non-contributory role of the variant of interest. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Due to the absence of clinical information and lack of functional studies, the variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001240108 SCV001413031 likely benign RASopathy 2023-02-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467722 SCV002763372 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467721 SCV002763373 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001543366 SCV001761924 uncertain significance Primary dilated cardiomyopathy no assertion criteria provided research

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