ClinVar Miner

Submissions for variant NM_001004051.4(GPRASP2):c.63G>C (p.Glu21Asp)

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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 RCV004077790 SCV003544928 uncertain significance not specified 2024-09-08 criteria provided, single submitter clinical testing The c.63G>C (p.E21D) alteration is located in exon 5 (coding exon 1) of the GPRASP2 gene. This alteration results from a G to C substitution at nucleotide position 63, causing the glutamic acid (E) at amino acid position 21 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936637 SCV004751979 benign GPRASP2-related disorder 2021-06-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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