ClinVar Miner

Submissions for variant NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg)

gnomAD frequency: 0.00001  dbSNP: rs753065727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328969 SCV001520239 uncertain significance Cerebral palsy, spastic quadriplegic, 3 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035658 SCV003698384 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.1372G>A (p.G458R) alteration is located in exon 10 (coding exon 9) of the ADD3 gene. This alteration results from a G to A substitution at nucleotide position 1372, causing the glycine (G) at amino acid position 458 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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