ClinVar Miner

Submissions for variant NM_001170535.3(ATAD3A):c.964-1G>T

dbSNP: rs1641698007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270778 SCV001451537 likely pathogenic Harel-Yoon syndrome 2019-05-21 criteria provided, single submitter clinical testing The ATAD3A c.1108-1G>T variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the predicted consequence of the variant, its rarity, and identification in trans with a pathogenic variant, the ATAD3A c.1108-1G>T variant is classified as likely pathogenic for Harel-Yoon syndrome.

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