ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) (rs55826713)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425249 SCV000519999 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the HSPB8 gene. The R78M variant has been reported previously in multiple affected family members with distal hereditary motor neuropathy type V (Capponi et al., 2014). The R78M variant is observed in 137/125,858 (0.1%) alleles from individuals of European background in large population cohorts, which is greater than expected for this disorder (Lek et al., 2016). The R78M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001086157 SCV000639051 likely benign Charcot-Marie-Tooth disease, type 2L 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086157 SCV001266364 likely benign Charcot-Marie-Tooth disease, type 2L 2017-09-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001111397 SCV001268952 benign Distal hereditary motor neuronopathy type 2A 2017-09-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc RCV001289004 SCV001476489 benign not specified 2019-12-17 criteria provided, single submitter clinical testing

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