ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) (rs139592595)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521504 SCV000616436 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.73C>T (p.Pro25Ser) variant in the SOS1 gene is 0.23% for African chromosomes by the Exome Aggregation Consortium (21/6116 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154848 SCV000204530 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro25Ser in Exon 01 of SOS1: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (12/3732) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs139592595).
GeneDx RCV000154848 SCV000209065 likely benign not specified 2017-09-20 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154848 SCV000224487 likely benign not specified 2015-06-18 criteria provided, single submitter clinical testing
Invitae RCV000521504 SCV000659152 likely benign Rasopathy 2020-11-17 criteria provided, single submitter clinical testing

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