ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1076A>G (p.Asn359Ser)

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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 RCV003086962 SCV003486018 uncertain significance Multiple endocrine neoplasia, type 2 2022-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RET-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 359 of the RET protein (p.Asn359Ser). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV004540556 SCV004764959 uncertain significance RET-related disorder 2024-02-21 no assertion criteria provided clinical testing The RET c.1076A>G variant is predicted to result in the amino acid substitution p.Asn359Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is not present in ClinVar. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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