ClinVar Miner

Submissions for variant NC_000001.10:g.(?_154163642)_(154164494_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943283 SCV002180316 pathogenic Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-01-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with autosomal recessive nemaline myopathy (PMID: 27858751). This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the TPM3 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TPM3 are known to be pathogenic (PMID: 10619715, 27858751).

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