ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn)

gnomAD frequency: 0.00092  dbSNP: rs148498977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902048 SCV001046449 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000902048 SCV001551228 uncertain significance not provided no assertion criteria provided clinical testing The DMP1 p.S384N variant was not identified in the literature but was identified in dbSNP (ID: rs148498977) and ClinVar (classified as benign by Invitae). The variant was identified in control databases in 81 of 282832 chromosomes (1 homozygous) at a frequency of 0.0002864, and was observed at the highest frequency in the African population in 80 of 24954 chromosomes (1 homozygous) (freq: 0.003206) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.S384 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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