ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.541C>T (p.His181Tyr) (rs1057524690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427937 SCV000536238 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing The H181Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H181Y variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H181Y variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A different amino acid substitution at the same position (H181P) was previously identified in a patient with clinical features of tuberous sclerosis, but functional studies and segregation analysis were not performed (Niida et al., 2013). Therefore, based on the currently available information, it is unclear whether the H181Y variant is a pathogenic variant or a rare benign variant.

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