ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)

gnomAD frequency: 0.00002  dbSNP: rs768937237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001505311 SCV001710204 likely benign Legius syndrome 2021-06-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813434 SCV002060929 uncertain significance Noonan syndrome and Noonan-related syndrome 2019-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165655 SCV003858439 likely benign Cardiovascular phenotype 2023-02-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003401189 SCV004136303 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SPRED1: BP4, BP7

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