Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000509461 | SCV001523021 | uncertain significance | Intellectual disability, autosomal recessive 1 | 2023-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527382 | SCV003748761 | uncertain significance | Inborn genetic diseases | 2022-12-13 | criteria provided, single submitter | clinical testing | The c.37G>A (p.G13R) alteration is located in exon 1 (coding exon 1) of the PRSS12 gene. This alteration results from a G to A substitution at nucleotide position 37, causing the glycine (G) at amino acid position 13 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479146 | SCV004222683 | uncertain significance | not specified | 2023-11-15 | criteria provided, single submitter | clinical testing | Variant summary: PRSS12 c.37G>A (p.Gly13Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00036 in 248470 control chromosomes (gnomAD). c.37G>A has been reported in the literature in an individual affected with Intellectual Disability without cosegregation information, and they also had other co-occurring variants (Redin_2014). This report does not provide unequivocal conclusions about association of the variant with Intellectual Disability, Autosomal Recessive 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 25167861). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Both submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome |
RCV000509461 | SCV000607047 | not provided | Intellectual disability, autosomal recessive 1 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |