ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2737G>A (p.Val913Met)

gnomAD frequency: 0.00003  dbSNP: rs762641681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002039766 SCV002113125 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 913 of the LAMA1 protein (p.Val913Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs762641681, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. 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 methionine 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.
Ambry Genetics RCV004038940 SCV004894186 uncertain significance Inborn genetic diseases 2022-02-04 criteria provided, single submitter clinical testing The c.2737G>A (p.V913M) alteration is located in exon 20 (coding exon 20) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 2737, causing the valine (V) at amino acid position 913 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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