ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) (rs61755731)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767052 SCV000251616 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing p.Arg142Lys (AGA>AAA): c.425 G>A in exon 3 of the HSPD1 gene (NM_002156.4). The R142K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI Exome Sequencing Project reports R142K was observed in 25/4406 alleles from individuals of African American background. The R142K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. 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 MITONUC-MITOP panel(s).
Athena Diagnostics Inc RCV000199711 SCV000613683 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV001088351 SCV000754279 benign Spastic paraplegia 2019-05-09 criteria provided, single submitter clinical testing

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