ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.258G>C (p.Gln86His)

gnomAD frequency: 0.00006  dbSNP: rs141305380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336252 SCV001529592 uncertain significance Autosomal recessive spinocerebellar ataxia 2 2018-12-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035806 SCV005009720 uncertain significance Inborn genetic diseases 2023-10-30 criteria provided, single submitter clinical testing The c.258G>C (p.Q86H) alteration is located in exon 2 (coding exon 2) of the PMPCA gene. This alteration results from a G to C substitution at nucleotide position 258, causing the glutamine (Q) at amino acid position 86 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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