ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.2048A>G (p.Asn683Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464971 SCV002759340 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067550 SCV004868472 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.2048A>G (p.N683S) alteration is located in exon 11 (coding exon 11) of the SPATA5 gene. This alteration results from a A to G substitution at nucleotide position 2048, causing the asparagine (N) at amino acid position 683 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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