ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) (rs397517898)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041335 SCV000065028 uncertain significance not specified 2010-09-21 criteria provided, single submitter clinical testing The Gly609Arg variant has not been reported in the literature nor identified in any other families tested by our laboratory. This variant affects only one of tw o RNAs generated by the LMNA gene. Glycine (Gly) at position 609 is not 100% con served across different species (lizard carries a serine and frog carries a thre onine), reducing the likelihood that the change is pathogenic. On the other hand segregation of the Gly609Arg variant in this family is so far consistent with a disease causing role and autosomal dominant inheritance.

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