ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala)

gnomAD frequency: 0.00002  dbSNP: rs756406841
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969408 SCV002264766 uncertain significance RASopathy 2020-12-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of Noonan syndrome (Invitae). This variant is present in population databases (rs756406841, ExAC 0.01%). This sequence change replaces proline with alanine at codon 1168 of the SOS1 protein (p.Pro1168Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
Ambry Genetics RCV002458913 SCV002615116 uncertain significance Cardiovascular phenotype 2020-02-28 criteria provided, single submitter clinical testing The p.P1168A variant (also known as c.3502C>G), located in coding exon 22 of the SOS1 gene, results from a C to G substitution at nucleotide position 3502. The proline at codon 1168 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468369 SCV002763209 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468370 SCV002763570 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883731 SCV004698457 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing

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