ClinVar Miner

Submissions for variant NM_000712.4(BLVRA):c.154G>A (p.Asp52Asn)

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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 RCV003076295 SCV003448477 likely benign not provided 2024-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070275 SCV003694126 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.154G>A (p.D52N) alteration is located in exon 4 (coding exon 3) of the BLVRA gene. This alteration results from a G to A substitution at nucleotide position 154, causing the aspartic acid (D) at amino acid position 52 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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