ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.973C>T (p.Arg325Cys)

gnomAD frequency: 0.00003  dbSNP: rs775655777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002769390 SCV003753167 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.973C>T (p.R325C) alteration is located in exon 8 (coding exon 8) of the PMPCB gene. This alteration results from a C to T substitution at nucleotide position 973, causing the arginine (R) at amino acid position 325 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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