Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690357 | SCV000818039 | likely benign | Severe combined immunodeficiency due to LCK deficiency | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000690357 | SCV001468380 | uncertain significance | Severe combined immunodeficiency due to LCK deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | LCK NM_001042771.2 exon 7 p.Gly201Ser (c.601G>A): This variant has not been reported in the literature but is present in 0.2% (273/129110) of European alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-32741634-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:569666). This variant amino acid Serine (Ser) is present in >25 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. Of note, although this variant occurs in the exon, splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003907949 | SCV004719099 | likely benign | LCK-related condition | 2022-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV001703233 | SCV001931268 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001703233 | SCV001965303 | likely benign | not provided | no assertion criteria provided | clinical testing |