ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.927+4T>C

gnomAD frequency: 0.00037  dbSNP: rs201984003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875541 SCV001017984 likely benign Intellectual disability, autosomal recessive 42 2024-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847099 SCV002105474 uncertain significance Hereditary spastic paraplegia 2020-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539203 SCV003551203 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.927+4T>C intronic alteration consists of a T to C substitution nucleotides after coding exon 7 in the PGAP1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003432846 SCV004148363 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PGAP1: BP4

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