ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.-31C>T

gnomAD frequency: 0.00152  dbSNP: rs2233695
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204678 SCV000261372 benign Hereditary spastic paraplegia 2 2023-03-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514040 SCV000610952 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514040 SCV000843294 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258262 SCV001435182 benign Pelizaeus-Merzbacher disease criteria provided, single submitter research The hemizygous c.-31C>T variant in PLP1 has been identified in a Japanese individual with Perlizaeus-Merzbacher disease (PMID: 8723686), and has been identified in >2% of East Asian chromosomes, 61 hemizygotes, and 1 homozygote by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for X-linked recessive Perlizaeus-Merzbacher disease.
Fulgent Genetics, Fulgent Genetics RCV002500653 SCV002804941 likely benign Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 2022-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000514040 SCV003761863 likely benign not provided 2021-10-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000514040 SCV005206656 likely benign not provided criteria provided, single submitter not provided
OMIM RCV001815250 SCV000032070 uncertain significance Pelizaeus-Merzbacher disease, mild 1996-01-01 no assertion criteria provided literature only

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