ClinVar Miner

Submissions for variant NM_020975.6(RET):c.95C>T (p.Ser32Leu)

dbSNP: rs76764689
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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 RCV002514098 SCV003441424 likely pathogenic Multiple endocrine neoplasia, type 2 2022-08-20 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Hirschsprung disease (PMID: 7581377, 8114939). It has also been observed to segregate with disease in related individuals. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects RET function (PMID: 8654369, 8894691, 9681515, 20473317). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 13923). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 32 of the RET protein (p.Ser32Leu).
OMIM RCV000014948 SCV000035204 risk factor Hirschsprung disease, susceptibility to, 1 1994-01-27 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678742 SCV000804914 likely pathogenic Aganglionic megacolon 2014-07-29 no assertion criteria provided clinical testing

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