ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.830A>T (p.Asp277Val)

gnomAD frequency: 0.00041  dbSNP: rs150370442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652797 SCV000774668 likely benign Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001592825 SCV001826277 uncertain significance not provided 2024-06-23 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002534181 SCV003681027 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.830A>T (p.D277V) alteration is located in exon 5 (coding exon 5) of the SPATA5 gene. This alteration results from a A to T substitution at nucleotide position 830, causing the aspartic acid (D) at amino acid position 277 to be replaced by a valine (V). The p.D277V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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