ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2275A>G (p.Ile759Val)

gnomAD frequency: 0.00004  dbSNP: rs956839910
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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 RCV001890398 SCV002156836 likely benign Noonan syndrome 9 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041269 SCV005025046 uncertain significance Cardiovascular phenotype 2024-09-02 criteria provided, single submitter clinical testing The c.2275A>G (p.I759V) alteration is located in exon 14 (coding exon 14) of the SOS2 gene. This alteration results from a A to G substitution at nucleotide position 2275, causing the isoleucine (I) at amino acid position 759 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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