ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)

gnomAD frequency: 0.00001  dbSNP: rs756565236
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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 RCV002159719 SCV002331528 likely benign Noonan syndrome 9 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161343 SCV003857643 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The c.680C>G (p.A227G) alteration is located in exon 5 (coding exon 5) of the SOS2 gene. This alteration results from a C to G substitution at nucleotide position 680, causing the alanine (A) at amino acid position 227 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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