Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592117 | SCV000706214 | uncertain significance | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000592117 | SCV001025631 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532522 | SCV003731289 | uncertain significance | Inborn genetic diseases | 2021-09-13 | criteria provided, single submitter | clinical testing | The c.87G>T (p.E29D) alteration is located in exon 1 (coding exon 1) of the DCPS gene. This alteration results from a G to T substitution at nucleotide position 87, causing the glutamic acid (E) at amino acid position 29 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701689 | SCV005204199 | uncertain significance | not specified | 2024-06-28 | criteria provided, single submitter | clinical testing | Variant summary: DCPS c.87G>T (p.Glu29Asp) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00071 in 251372 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in DCPS causing Al-Raqad Syndrome, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.87G>T in individuals affected with Al-Raqad Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 500319). Based on the evidence outlined above, the variant was classified as uncertain significance. |