ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.886C>T (p.Leu296=)

gnomAD frequency: 0.00003  dbSNP: rs199723694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522909 SCV000616497 benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.886C>T (p.Leu296=) variant in the SHOC2 gene is 0.08% (15/11572) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Labcorp Genetics (formerly Invitae), Labcorp RCV000522909 SCV001015487 benign RASopathy 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001712481 SCV001940714 benign not provided 2021-06-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155220 SCV003844402 benign not specified 2023-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023532 SCV005025943 likely benign Cardiovascular phenotype 2024-01-03 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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