ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)

gnomAD frequency: 0.00029  dbSNP: rs199683760
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916875 SCV001062129 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000916875 SCV001791838 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540912 SCV003541139 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.368G>C (p.G123A) alteration is located in exon 4 (coding exon 3) of the DSPP gene. This alteration results from a G to C substitution at nucleotide position 368, causing the glycine (G) at amino acid position 123 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000916875 SCV003829149 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000916875 SCV004152890 benign not provided 2023-11-01 criteria provided, single submitter clinical testing DSPP: BP4, BS1, BS2

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