ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser)

gnomAD frequency: 0.00028  dbSNP: rs28369373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942571 SCV002132160 uncertain significance not provided 2024-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 775 of the LAMA1 protein (p.Gly775Ser). This variant is present in population databases (rs28369373, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365082). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002490019 SCV002800863 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550971 SCV003675230 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2323G>A (p.G775S) alteration is located in exon 17 (coding exon 17) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 2323, causing the glycine (G) at amino acid position 775 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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