ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.925G>A (p.Asp309Asn)

dbSNP: rs397517180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808257 SCV002058890 likely pathogenic Noonan syndrome 4 2022-01-03 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000045379, PMID:17143285, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.753, PP3_P). A missense variant is a common mechanism associated with Noonan syndrome 4 (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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