ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile)

gnomAD frequency: 0.00001  dbSNP: rs566853691
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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 RCV001996946 SCV002223946 uncertain significance LAMA2-related muscular dystrophy 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 2174 of the LAMA2 protein (p.Val2174Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs566853691, ExAC 0.01%). This variant has not been reported in the literature in individuals with LAMA2-related disease. 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: "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.
Fulgent Genetics, Fulgent Genetics RCV002492088 SCV002793517 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134293 SCV003812734 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043841 SCV004895585 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.6520G>A (p.V2174I) alteration is located in exon 46 (coding exon 46) of the LAMA2 gene. This alteration results from a G to A substitution at nucleotide position 6520, causing the valine (V) at amino acid position 2174 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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