ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)

dbSNP: rs560350898
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810638 SCV001474580 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing The PEX7 c.234C>A; p.Asn78Lys variant (rs560350898), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the South Asian population with an allele frequency of 0.069% (21/30616 alleles) in the Genome Aggregation Database. The asparagine at codon 78 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asn78Lys variant is uncertain at this time.
Invitae RCV001470243 SCV001674338 likely benign Peroxisome biogenesis disorder 9B 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447255 SCV002732661 uncertain significance Inborn genetic diseases 2021-09-09 criteria provided, single submitter clinical testing The p.N78K variant (also known as c.234C>A), located in coding exon 3 of the PEX7 gene, results from a C to A substitution at nucleotide position 234. The asparagine at codon 78 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001810638 SCV003842728 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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