ClinVar Miner

Submissions for variant NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)

gnomAD frequency: 0.00021  dbSNP: rs200021943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606397 SCV000745385 uncertain significance Cayman type cerebellar ataxia 2017-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531734 SCV003725399 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.442G>A (p.A148T) alteration is located in exon 5 (coding exon 4) of the ATCAY gene. This alteration results from a G to A substitution at nucleotide position 442, causing the alanine (A) at amino acid position 148 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606397 SCV000733885 uncertain significance Cayman type cerebellar ataxia no assertion criteria provided clinical testing

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