ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1739C>G (p.Pro580Arg)

dbSNP: rs1669835119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942715 SCV002134779 uncertain significance RASopathy 2023-07-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 580 of the SOS1 protein (p.Pro580Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365663). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003401796 SCV004104479 uncertain significance SOS1-related disorder 2023-08-24 criteria provided, single submitter clinical testing The SOS1 c.1739C>G variant is predicted to result in the amino acid substitution p.Pro580Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003426226 SCV004145975 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing SOS1: PM2

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