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

gnomAD frequency: 0.00131  dbSNP: rs61755731

Total submissions: 4

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	RCV000767052	SCV000613683	benign	not provided	2021-12-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088351	SCV000754279	benign	Spastic paraplegia	2024-01-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000767052	SCV004225972	uncertain significance	not provided	2022-04-15	criteria provided, single submitter	clinical testing	BS1