Submissions for variant NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) (rs764085979)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461811	SCV000543525	pathogenic	Lynch syndrome	2016-11-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal at codon 233 (p.Cys233*) of the MLH1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Color	RCV000580763	SCV000684860	pathogenic	Hereditary cancer-predisposing syndrome	2017-05-01	criteria provided, single submitter	clinical testing

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