ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)

gnomAD frequency: 0.00001  dbSNP: rs539117121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476761 SCV001680974 likely benign RASopathy 2023-11-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813599 SCV002060877 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396134 SCV002701553 likely benign Cardiovascular phenotype 2019-07-04 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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