ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.1910T>A (p.Leu637Gln)

gnomAD frequency: 0.00001  dbSNP: rs1476739837
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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 RCV001976728 SCV002260859 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 637 of the SPATA5 protein (p.Leu637Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPATA5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001976728 SCV003824535 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004976057 SCV005573516 uncertain significance Inborn genetic diseases 2024-09-25 criteria provided, single submitter clinical testing The c.1910T>A (p.L637Q) alteration is located in exon 11 (coding exon 11) of the SPATA5 gene. This alteration results from a T to A substitution at nucleotide position 1910, causing the leucine (L) at amino acid position 637 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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