ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln)

gnomAD frequency: 0.00002  dbSNP: rs145877456
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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 RCV000823949 SCV000964824 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2024-03-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 381 of the LRSAM1 protein (p.Arg381Gln). This variant is present in population databases (rs145877456, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 665625). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRSAM1 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 RCV002536006 SCV003634618 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.1142G>A (p.R381Q) alteration is located in exon 15 (coding exon 14) of the LRSAM1 gene. This alteration results from a G to A substitution at nucleotide position 1142, causing the arginine (R) at amino acid position 381 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genesis Genome Database RCV000857214 SCV000999798 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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