ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8314C>T (p.Arg2772Cys)

gnomAD frequency: 0.00002  dbSNP: rs760542877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001573626 SCV002228550 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1206240). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. This variant is present in population databases (rs760542877, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2772 of the LAMA1 protein (p.Arg2772Cys). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002568475 SCV003677671 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.8314C>T (p.R2772C) alteration is located in exon 58 (coding exon 58) of the LAMA1 gene. This alteration results from a C to T substitution at nucleotide position 8314, causing the arginine (R) at amino acid position 2772 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573626 SCV001799787 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573626 SCV001975384 likely benign not provided no assertion criteria provided clinical testing

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