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

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Total submissions: 2

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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	RCV000425249	SCV000639051	likely benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing

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