ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)

gnomAD frequency: 0.00014  dbSNP: rs149104855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001785197 SCV002025729 uncertain significance Multiple mitochondrial dysfunctions syndrome 6 2020-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541228 SCV003706324 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.661A>G (p.I221V) alteration is located in exon 6 (coding exon 6) of the PMPCB gene. This alteration results from a A to G substitution at nucleotide position 661, causing the isoleucine (I) at amino acid position 221 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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