ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914944 SCV003266810 likely benign Hereditary spastic paraplegia 2 2024-02-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134549 SCV003811193 uncertain significance not provided 2021-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958855 SCV005474422 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.578C>A (p.T193N) alteration is located in exon 4 (coding exon 4) of the PLP1 gene. This alteration results from a C to A substitution at nucleotide position 578, causing the threonine (T) at amino acid position 193 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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