ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003311511 SCV004002681 uncertain significance Cardiovascular phenotype 2023-03-17 criteria provided, single submitter clinical testing The c.1758_1775dup18 variant (also known as p.I586_N591dup), located in coding exon 10 of the SOS1 gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 1758 to 1775. This results in the duplication of 6 extra residues (IIFEEN) between codons 586 and 591. This amino acid position ranges from highly conserved to poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003655418 SCV004455869 uncertain significance RASopathy 2023-04-13 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. This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1758_1775dup, results in the insertion of 6 amino acid(s) of the SOS1 protein (p.Ile586_Asn591dup), but otherwise preserves the integrity of the reading frame.

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