ClinVar Miner

Submissions for variant NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)

gnomAD frequency: 0.00001  dbSNP: rs751499706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001731850 SCV001983099 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in the last 5 amino acids being replaced with 14 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Published functional studies demonstrate a damaging effect (PMID: 29390050); This variant is associated with the following publications: (PMID: 28991257, 34426522, 33134516, 29390050, 32368696, 35550246)
Labcorp Genetics (formerly Invitae), Labcorp RCV001731850 SCV002260142 pathogenic not provided 2024-12-28 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ATAD1 gene (p.His357Argfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the ATAD1 protein and extend the protein by 9 additional amino acid residues. This variant is present in population databases (rs751499706, gnomAD 0.004%). This frameshift has been observed in individuals with clinical features of ATAD1-related conditions (PMID: 29390050, 33134516). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 545496). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this frameshift affects ATAD1 function (PMID: 29390050). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000656482 SCV005678961 likely pathogenic Hyperekplexia 4 2023-12-29 criteria provided, single submitter clinical testing
OMIM RCV000656482 SCV000778451 pathogenic Hyperekplexia 4 2018-06-08 no assertion criteria provided literature only

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