ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)

gnomAD frequency: 0.00001  dbSNP: rs1284718719
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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 RCV003064818 SCV003451974 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2022-06-19 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 54 of the LRSAM1 protein (p.Val54Ile).
Ambry Genetics RCV004985138 SCV005619348 uncertain significance Inborn genetic diseases 2024-08-11 criteria provided, single submitter clinical testing The c.160G>A (p.V54I) alteration is located in exon 4 (coding exon 3) of the LRSAM1 gene. This alteration results from a G to A substitution at nucleotide position 160, causing the valine (V) at amino acid position 54 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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