ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002670055 SCV003536513 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.281A>G (p.Q94R) alteration is located in exon 4 (coding exon 4) of the HACE1 gene. This alteration results from a A to G substitution at nucleotide position 281, causing the glutamine (Q) at amino acid position 94 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813218 SCV005438478 uncertain significance Spastic paraplegia-severe developmental delay-epilepsy syndrome 2024-12-18 criteria provided, single submitter clinical testing

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