Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000412348 | SCV000485957 | likely pathogenic | Ataxia-telangiectasia syndrome | 2016-03-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002418228 | SCV002730024 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-28 | criteria provided, single submitter | clinical testing | The p.S712* variant (also known as c.2135C>G), located in coding exon 13 of the ATM gene, results from a C to G substitution at nucleotide position 2135. This changes the amino acid from a serine to a stop codon within coding exon 13. This alteration has been reported in a homozygous state in an individual with Ataxia-Telangiectasia (AT) (Berland A et al. J. Allergy Clin. Immunol., 2019 01;143:325-334.e2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV000412348 | SCV004535442 | pathogenic | Ataxia-telangiectasia syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with ATM-related conditions (PMID: 21665257, 33919281). ClinVar contains an entry for this variant (Variation ID: 370600). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser712*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |