ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) (rs757213444)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523182 SCV000616517 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1772A>G (p.Asn591Ser) variant in the SOS1 gene is 0.054% (11/11524) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Invitae RCV000523182 SCV000659132 likely benign Rasopathy 2019-07-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606527 SCV000713844 benign not specified 2018-01-19 criteria provided, single submitter clinical testing p.Asn591Ser in exon 10 of SOS1: This variant has been classified as benign by a ClinGen-approved expert panel (ClinVar ID:448943). It is not expected to have cl inical significance because it has been identified in 0.09% (32/34374) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org/; dbSNP rs757213444). ACMG/AMP Criteria applied: BA1; BP4.
GeneDx RCV000606527 SCV000714997 benign not specified 2017-07-05 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.

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