Submissions for variant NM_000548.5(TSC2):c.170G>A (p.Arg57His) (rs397514949)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472366	SCV000544328	uncertain significance	Tuberous sclerosis 2	2019-11-25	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with histidine at codon 57 of the TSC2 protein (p.Arg57His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs397514949, ExAC 0.002%). This variant has been reported in several individuals from a single family with apparently mild features of tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). The clinical significance of this observation in uncertain. ClinVar contains an entry for this variant (Variation ID: 64932). This variant has been reported to affect TSC2 protein function (PMID: 2139039). 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.
Tuberous sclerosis database (TSC2)	RCV000055135	SCV000083353	not provided	Tuberous sclerosis syndrome		no assertion provided	curation

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