Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002122402 | SCV002398395 | likely benign | not provided | 2024-11-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003015324 | SCV003614054 | uncertain significance | Inborn genetic diseases | 2022-04-14 | criteria provided, single submitter | clinical testing | The c.1796C>T (p.T599M) alteration is located in exon 13 (coding exon 13) of the LAMA1 gene. This alteration results from a C to T substitution at nucleotide position 1796, causing the threonine (T) at amino acid position 599 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV002122402 | SCV003933296 | uncertain significance | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331298 | SCV004038769 | uncertain significance | not specified | 2023-08-21 | criteria provided, single submitter | clinical testing | Variant summary: LAMA1 c.1796C>T (p.Thr599Met) results in a non-conservative amino acid change located in the Laminin IV domain (IPR000034) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251480 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in LAMA1 causing Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1796C>T in individuals affected with Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014; two classified the variant as a avriant of uncertain significance, and one classified it as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |