ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)

gnomAD frequency: 0.00001  dbSNP: rs374497013
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813704 SCV002060888 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869622 SCV002252468 benign RASopathy 2022-12-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468320 SCV002763557 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468319 SCV002763558 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV003299015 SCV004002688 likely benign Cardiovascular phenotype 2023-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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