ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) (rs386628081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560035 SCV000646018 uncertain significance Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2018-05-23 criteria provided, single submitter clinical testing This variant, c.2160_2163delinsA, results in the deletion of 1 amino acid of the PLEKHG5 protein (p.Glu723del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PLEKHG5-related disease. This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected PLEKHG5-related disease (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 468903). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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