ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del) (rs863224061)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197447 SCV000251689 uncertain significance not specified 2015-01-13 criteria provided, single submitter clinical testing c.113_115delCCT: p.Ser38del (S38del) in exon 1 of the LRPPRC gene (NM_133259.3). The normal sequence with the bases that are deleted in braces is: GCCT{CCT}ATCT A variant of unknown significance has been identified in the LRPPRC gene. The c.113_115delCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This deletion of three nucleotides causes a deletion of a Serine residue at codon 38, denoted p.Ser38del. The c.113_115delCCT variant occurs at a position that is not conserved across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in OAPEO-MITOP panel(s).

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