ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) (rs1060499981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467767 SCV000541213 likely pathogenic Multiple endocrine neoplasia, type 1 2017-07-06 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 443 of the MEN1 protein (p.Ser443Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported individuals affected with multiple endocrine neoplasia type 1 (MEN1) (PMID: 17853334, 25309600, 21069576). ClinVar contains an entry for this variant (Variation ID: 403825). Experimental studies have shown that this missense change disrupts protein stability in vitro (PMID: 22090276). In summary, this variant is a rare missense that has been reported to disrupt protein function and has been reported in affected individuals. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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