ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)

gnomAD frequency: 0.00004  dbSNP: rs398123388
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078803 SCV000110663 uncertain significance not provided 2013-05-22 criteria provided, single submitter clinical testing
Counsyl RCV000669930 SCV000794730 uncertain significance Merosin deficient congenital muscular dystrophy 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV000809231 SCV000949374 uncertain significance LAMA2-related muscular dystrophy 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 277 of the LAMA2 protein (p.Ser277Leu). This variant is present in population databases (rs398123388, gnomAD 0.01%). This missense change has been observed in individual(s) with LAMA2-related muscular dystrophy (PMID: 24225367). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 92990). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Revvity Omics, Revvity RCV000078803 SCV003815822 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing
Hadassah Hebrew University Medical Center RCV003387755 SCV004099511 likely pathogenic Muscular dystrophy, limb-girdle, autosomal recessive 23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669930 SCV004190474 likely pathogenic Merosin deficient congenital muscular dystrophy 2023-07-27 criteria provided, single submitter clinical testing

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