Submissions for variant NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)

dbSNP: rs1727756750

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Goettingen	RCV001034605	SCV001160744	likely pathogenic	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	2020-02-11	criteria provided, single submitter	clinical testing	The DSPP p.Gly123Glufs*30-variant found in our clinic is a combination of two other variants already reported in gnomAD & dbSNP (g.88533705_88533706ins25, c.367_368ins25, p.Gly123Glufs*30 (rs751792838) & g.88533709T>A, c.371T>A, p.Ile124Lys (rs768120028)), which were found at a population frequency < 0.003%. Because the patient presented with a phenotype highly matching DSPP associated deafness (autosomal dominant, type 39, with dentinogenesis, OMIM: 605594) and because the variant induces a protein length change as a result of an out of frame deletion in a non-repeat region, we consider this variant to be likely pathogenic.
GeneDx	RCV001537477	SCV001754363	uncertain significance	not provided	2020-08-10	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge