Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150994 | SCV000198682 | likely benign | not specified | 2014-09-04 | criteria provided, single submitter | clinical testing | Asn237Ser in exon 6 of LOXHD1: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, several species including three mammals have a serine (Ser) at this position despite high nearby amino acid conservation. In addition, computational predict ion tools do not suggest a high likelihood of impact to the protein. |
| Eurofins Ntd Llc |
RCV000728055 | SCV000855580 | uncertain significance | not provided | 2017-07-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002514909 | SCV003706015 | uncertain significance | Inborn genetic diseases | 2024-09-11 | criteria provided, single submitter | clinical testing | The c.710A>G (p.N237S) alteration is located in exon 6 (coding exon 6) of the LOXHD1 gene. This alteration results from a A to G substitution at nucleotide position 710, causing the asparagine (N) at amino acid position 237 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |