Submissions for variant NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)

dbSNP: rs113541584

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175472	SCV000226954	benign	not specified	2015-11-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320159	SCV000358741	likely benign	Distal spinal muscular atrophy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001721107	SCV000729476	benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Invitae	RCV001510604	SCV001717691	benign	Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000175472	SCV004804474	benign	not specified	2024-01-11	criteria provided, single submitter	clinical testing	Variant summary: PLEKHG5 c.2166_2168delGGA (p.Glu723del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 0.076 in 196576 control chromosomes in the gnomAD database, including 383 homozygotes. The observed variant frequency is approximately 67.99 fold of the estimated maximal expected allele frequency for a pathogenic variant in PLEKHG5 causing Distal Spinal Muscular Atrophy, Autosomal Recessive 4 phenotype (0.0011), strongly suggesting that the variant is benign. ClinVar contains an entry for this variant (Variation ID: 194979). Based on the evidence outlined above, the variant was classified as benign.
Clinical Genetics, Academic Medical Center	RCV000175472	SCV001922317	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000175472	SCV001927172	benign	not specified		no assertion criteria provided	clinical testing