Submissions for variant NM_000071.2(CBS):c.738delG (rs766453711)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000410740	SCV000543510	pathogenic	Classic homocystinuria	2018-09-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys247Serfs*22) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766453711, ExAC 0.002%). This variant has not been reported in the literature in individuals with CBS-related disease. ClinVar contains an entry for this variant (Variation ID: 370105). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.
Counsyl	RCV000410740	SCV000485335	likely pathogenic	Classic homocystinuria	2015-11-18	no assertion criteria provided	clinical testing

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