ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)

dbSNP: rs1894350607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213745 SCV001385394 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 170 of the CHST14 protein (p.Ala170Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CHST14-related conditions. ClinVar contains an entry for this variant (Variation ID: 943538). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001509476 SCV001716208 uncertain significance not provided 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163629 SCV003858794 uncertain significance Cardiovascular phenotype 2022-11-15 criteria provided, single submitter clinical testing The c.507_508delGGinsTT variant (also known as p.A170S), located in coding exon 1 of the CHST14 gene, results from an in-frame deletion of GG and insertion of TT at nucleotide positions 507 to 508. This results in the substitution of the alanine residue for a serine residue at codon 170, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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