Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460554 | SCV000548365 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000730081 | SCV000857792 | uncertain significance | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002628 | SCV001160611 | uncertain significance | not specified | 2019-06-17 | criteria provided, single submitter | clinical testing | The SCN9A c.1714G>A, p.Asp572Asn variant (rs747040987), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 408586). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.04 percent in the Latino population (identified on 15 out of 34,528 chromosomes). The aspartic acid at position 572 is highly conserved and computational analyses of the effects of the p.Asp572Asn variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Asp572Asn variant with certainty. |
Mayo Clinic Laboratories, |
RCV000730081 | SCV001715729 | uncertain significance | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523312 | SCV003699637 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.1714G>A (p.D572N) alteration is located in exon 12 (coding exon 11) of the SCN9A gene. This alteration results from a G to A substitution at nucleotide position 1714, causing the aspartic acid (D) at amino acid position 572 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |