ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)

dbSNP: rs748320300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064304 SCV001229196 uncertain significance Charcot-Marie-Tooth disease axonal type 2L 2022-08-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 858430). This variant has not been reported in the literature in individuals affected with HSPB8-related conditions. This variant is present in population databases (rs748320300, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 29 of the HSPB8 protein (p.Arg29Ser).
CeGaT Center for Human Genetics Tuebingen RCV001171897 SCV001334789 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001171897 SCV003761662 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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