ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)

gnomAD frequency: 0.00029  dbSNP: rs139166382
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177130 SCV000228958 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177130 SCV000883709 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing The DHCR7 c.28C>G; p.Pro10Ala variant (rs139166382), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 196325). This variant is found in the general African population with an allele frequency of 0.1% (24/24026 alleles) in the Genome Aggregation Database. The proline at codon 10 is not highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Pro10Ala variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001832013 SCV002457143 likely benign Smith-Lemli-Opitz syndrome 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433771 SCV002746807 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The p.P10A variant (also known as c.28C>G), located in coding exon 1 of the DHCR7 gene, results from a C to G substitution at nucleotide position 28. The proline at codon 10 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001832013 SCV005632164 uncertain significance Smith-Lemli-Opitz syndrome 2024-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000177130 SCV005870355 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in 3/17,836 alleles in a study that used exome data sets to determine the carrier frequency for Smith-Lemli-Opitz Syndrome (PMID: 24813812); This variant is associated with the following publications: (PMID: 24813812)
Natera, Inc. RCV001832013 SCV002093083 uncertain significance Smith-Lemli-Opitz syndrome 2018-08-04 no assertion criteria provided clinical testing

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