Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000649916 | SCV000771752 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2018-10-24 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with LRSAM1-related disease. ClinVar contains an entry for this variant (Variation ID: 540002). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 692 of the LRSAM1 protein (p.His692Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. |
| Ambry Genetics | RCV003372789 | SCV004085455 | uncertain significance | Inborn genetic diseases | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.2076C>A (p.H692Q) alteration is located in exon 25 (coding exon 24) of the LRSAM1 gene. This alteration results from a C to A substitution at nucleotide position 2076, causing the histidine (H) at amino acid position 692 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |