ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2744C>T (p.Thr915Met) (rs765925466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221423 SCV000278963 uncertain significance not provided 2013-04-16 criteria provided, single submitter clinical testing T915M represents a semi-conservative amino acid substitution as a neutral, polar Threonine residue is replaced with a neutral, non-polar Methionine residue. The position in the NLRP3 protein where this substitution occurs is highly conserved among species; however, it is not located in the NACHT/NBD domain, which is the domain where nearly all NLRP3 disease-associated mutations have been identified. Therefore, based on the currently available information, it is unclear whether T915M is a disease-causing mutation or a rare benign variant. However, as this variant appears to segregate with disease in this family, these findings increase that likelihood that T915M is a disease-causing mutation.

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