ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) (rs61730399)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262915 SCV000358757 likely benign Distal spinal muscular atrophy, autosomal recessive 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000527612 SCV000514178 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Invitae RCV001082444 SCV000646073 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000527612 SCV001147079 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286042 SCV001472562 uncertain significance none provided 2019-09-13 criteria provided, single submitter clinical testing The PLEKHG5 c.928G>A; p.Asp310Asn variant (rs61730399), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database (Variation ID: 297961). This variant is found in the general population with an overall allele frequency of 0.25% (702/281,830 alleles; including 1 homozygote) in the Genome Aggregation Database. The aspartic acid at codon 310 is weakly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain.
Mayo Clinic Laboratories, Mayo Clinic RCV000527612 SCV001713777 uncertain significance not provided 2019-09-02 criteria provided, single submitter clinical testing

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