ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2232C>T (p.Asn744=) (rs2229869)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000587035 SCV000525680 benign not provided 2016-09-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587035 SCV000698735 benign not provided 2017-04-12 criteria provided, single submitter clinical testing Variant summary: The SOS2 c.2232C>T (p.Asn744Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of two ESE sites. However, these predictions have not been confirmed by functional studies. This variant was found in 75437/121388 control chromosomes from ExAC (23983 homozygotes) at a frequency of 0.6214535, thus allele T is the major allele at this position. One clinical diagnostic laboratory has classified this variant as benign. Therefore, this variant is classified as Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195557 SCV001365948 benign not specified 2018-12-27 criteria provided, single submitter clinical testing p.Asn744Asn in exon 14 of SOS2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 68.67% (45825/66736) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2229869).
Invitae RCV001515861 SCV001724028 benign Noonan syndrome 9 2020-12-04 criteria provided, single submitter clinical testing

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