ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)

dbSNP: rs1566606055
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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 RCV001267467 SCV001445648 likely pathogenic Inborn genetic diseases 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV003558781 SCV004297115 uncertain significance not provided 2022-12-24 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACTN1 protein function. ClinVar contains an entry for this variant (Variation ID: 986185). This missense change has been observed in individual(s) with ACTN1-related conditions (PMID: 25949529). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 320 of the ACTN1 protein (p.Arg320Gln).

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