ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)

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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 RCV002740933 SCV003018574 benign Osteogenesis imperfecta type I 2024-02-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738284 SCV004564392 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing The COL1A1 c.4039G>A; p.Asp1347Asn variant (rs191166865), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1971695). This variant is found in the general population with an overall allele frequency of 0.003% (8/279938 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.41). Due to limited information, the clinical significance of this variant is uncertain at this time.

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