ClinVar Miner

Submissions for variant NM_005632.3(CAPN15):c.2470G>A (p.Ala824Thr)

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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 RCV004201519 SCV003697941 uncertain significance not specified 2021-10-26 criteria provided, single submitter clinical testing The c.2470G>A (p.A824T) alteration is located in exon 10 (coding exon 7) of the CAPN15 gene. This alteration results from a G to A substitution at nucleotide position 2470, causing the alanine (A) at amino acid position 824 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003928923 SCV004744679 benign CAPN15-related disorder 2019-10-28 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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