ClinVar Miner

Submissions for variant NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)

gnomAD frequency: 0.00007  dbSNP: rs375517057
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563605 SCV001786580 uncertain significance Harel-Yoon syndrome 2021-01-14 criteria provided, single submitter clinical testing The ATAD3A c.412C>T (p.Arg138Trp) variant, is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000087 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg138Trp variant is classified as a variant of uncertain significance for Harel-Yoon syndrome.
Fulgent Genetics, Fulgent Genetics RCV002501909 SCV002780481 uncertain significance Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 2022-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002508318 SCV002818019 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003161103 SCV003864065 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.556C>T (p.R186W) alteration is located in exon 4 (coding exon 4) of the ATAD3A gene. This alteration results from a C to T substitution at nucleotide position 556, causing the arginine (R) at amino acid position 186 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223423 SCV003919081 uncertain significance Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 2023-04-20 criteria provided, single submitter research

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