ClinVar Miner

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

gnomAD frequency: 0.00152  dbSNP: rs2233695
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 Inc 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.
OMIM RCV001815250 SCV000032070 uncertain significance Pelizaeus-Merzbacher disease, mild 1996-01-01 no assertion criteria provided literature only

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