ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.835G>A (p.Val279Ile)

gnomAD frequency: 0.00001  dbSNP: rs188055807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037524 SCV002116053 uncertain significance RASopathy 2021-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SOS1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs188055807, ExAC 0.009%). This sequence change replaces valine with isoleucine at codon 279 of the SOS1 protein (p.Val279Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.
Ambry Genetics RCV004996026 SCV005506161 uncertain significance Cardiovascular phenotype 2024-10-06 criteria provided, single submitter clinical testing The c.835G>A (p.V279I) alteration is located in exon 6 (coding exon 6) of the SOS1 gene. This alteration results from a G to A substitution at nucleotide position 835, causing the valine (V) at amino acid position 279 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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