ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1057G>T (p.Asp353Tyr)

dbSNP: rs1837785429
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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 RCV001040385 SCV001203956 uncertain significance Multiple endocrine neoplasia, type 2 2023-07-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 838771). This missense change has been observed in individual(s) with Hirschsprung disease (PMID: 22174939). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 353 of the RET protein (p.Asp353Tyr).
Fulgent Genetics, Fulgent Genetics RCV005036315 SCV005668772 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-05-21 criteria provided, single submitter clinical testing

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