ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)

gnomAD frequency: 0.00061  dbSNP: rs147935593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592117 SCV000706214 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, LabCorp 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.

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