ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.39A>G (p.Glu13=)

gnomAD frequency: 0.00002  dbSNP: rs763337946
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000461204 SCV001192878 likely benign RASopathy 2019-11-04 reviewed by expert panel curation The c.39A>G (p.Glu13Glu) variant in SOS1 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing (BP4, BP7). It has been identified in 0.004165% (5/120058) of non-Finnish European chromosomes in gnomAD (BS1 not met; https://gnomad.broadinstitute.org). This variant was observed in several individuals with varying clinical presentations that lacked clear associations with a RASopathy. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied: BP4, BP7.
Eurofins Ntd Llc (ga) RCV000361364 SCV000334132 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461204 SCV000563109 likely benign RASopathy 2022-11-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813445 SCV002060909 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374457 SCV002625049 likely benign Cardiovascular phenotype 2019-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000361364 SCV004145982 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SOS1: BP4, BP7

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