ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.897+6G>A

dbSNP: rs150776126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336253 SCV001529593 uncertain significance Autosomal recessive spinocerebellar ataxia 2 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV001815539 SCV002063281 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547353 SCV003547331 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.897+6G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 7 in the PMPCA gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001815539 SCV004312143 uncertain significance not provided 2023-06-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1033742). This variant has not been reported in the literature in individuals affected with PMPCA-related conditions. This variant is present in population databases (rs150776126, gnomAD 0.06%). This sequence change falls in intron 7 of the PMPCA gene. It does not directly change the encoded amino acid sequence of the PMPCA protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003963227 SCV004792134 likely benign PMPCA-related disorder 2020-08-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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