ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1914C>T (p.Ile638=)

gnomAD frequency: 0.00002  dbSNP: rs375041479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013679 SCV001174297 likely benign Hereditary cancer-predisposing syndrome 2018-08-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001493439 SCV001698066 likely benign Multiple endocrine neoplasia, type 2 2024-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001493439 SCV004829681 uncertain significance Multiple endocrine neoplasia, type 2 2024-05-14 criteria provided, single submitter clinical testing This variant is located in the RET protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders in the literature. This variant has been identified in 6/248302 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004545014 SCV004781036 likely benign RET-related disorder 2020-05-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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