ClinVar Miner

Submissions for variant NM_020975.6(RET):c.135= (p.Ala45=)

gnomAD frequency: 0.20726  dbSNP: rs1800858
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216697 SCV000171355 benign not specified 2017-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083341 SCV000262421 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216697 SCV000271303 benign not specified 2018-03-12 criteria provided, single submitter clinical testing p.Ala35Ala in exon 2 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 26.5% (72821/275336) of chromosomes in the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org/; dbS NP rs1800858). There are several studies suggesting that the presence of this va riant in the heterozygous or homozygous state may be associated with a risk for Hirschprungs disease; however, the study sizes are limited and an updated study taking into account the high prevalence of this variant in the general populatio n would be necessary to clarify the association of this variant to disease. ACMG /AMP Criteria Applied: BA1.
Athena Diagnostics RCV000712294 SCV000842750 benign not provided 2017-09-08 criteria provided, single submitter clinical testing
OMIM RCV000014967 SCV000035223 risk factor Hirschsprung disease, susceptibility to, 1 2000-08-01 no assertion criteria provided literature only

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