ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)

gnomAD frequency: 0.00001  dbSNP: rs1177741110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055638 SCV001220038 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 154 of the CAPN3 protein (p.Ser154Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 851275). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003145306 SCV003830571 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283918 SCV003958020 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.461G>C (p.S154T) alteration is located in exon 3 (coding exon 3) of the CAPN3 gene. This alteration results from a G to C substitution at nucleotide position 461, causing the serine (S) at amino acid position 154 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001055638 SCV002094445 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-01-28 no assertion criteria provided clinical testing

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