ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)

dbSNP: rs1564502609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948016 SCV002197489 uncertain significance Multiple endocrine neoplasia, type 2 2023-06-15 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1093 of the RET protein (p.Asp1093Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Hirschsprung’s disease (PMID: 22648184). ClinVar contains an entry for this variant (Variation ID: 1416919). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003471051 SCV004208722 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-08-03 criteria provided, single submitter clinical testing

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