ClinVar Miner

Submissions for variant NC_000023.10:g.(?_152014869)_(155171615_?)del

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003119100 SCV003790062 pathogenic Adrenoleukodystrophy 2022-10-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ABCD1 gene has been identified. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003119101 SCV003790638 pathogenic 3-Methylglutaconic aciduria type 2 2022-10-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TAZ gene has been identified. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with Barth syndrome (PMID: 19396829). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003119102 SCV003790643 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2022-10-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the EMD gene has been identified. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with Emery–Dreifuss muscular dystrophy (EDMD) (PMID: 9384614, 10480214). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003109219 SCV003793205 pathogenic Spastic paraplegia 2022-10-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the L1CAM gene has been identified. Loss-of-function variants in L1CAM are known to be pathogenic (PMID: 19846429). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with X-linked hydrocephalus (PMID: 11968085). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003109218 SCV003793582 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-10-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FLNA gene has been identified. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with periventricular nodular heterotopia (PMID: 29334594). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003119103 SCV003794848 pathogenic Creatine transporter deficiency 2022-10-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC6A8 gene has been identified. Loss-of-function variants in SLC6A8 are known to be pathogenic (PMID: 22281021). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of creatinine transporter deficiency (PMID: 16601897, 23660394, 24962355). For these reasons, this variant has been classified as Pathogenic.

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