ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)

gnomAD frequency: 0.00004  dbSNP: rs752593199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647933 SCV000769740 likely benign Hereditary spastic paraplegia 3A 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440339 SCV002748042 uncertain significance Inborn genetic diseases 2019-10-29 criteria provided, single submitter clinical testing The p.N9K variant (also known as c.27C>G), located in coding exon 1 of the ATL1 gene, results from a C to G substitution at nucleotide position 27. The asparagine at codon 9 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231230 SCV005876457 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing The ATL1 c.27C>G; p.Asn9Lys variant (rs752593199), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 538580). This variant is observed in the general population with an overall allele frequency of 0.005% (14/280794 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is neutral (REVEL: 0.077). Due to limited information, the clinical significance of this variant is uncertain at this time.

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