ClinVar Miner

Submissions for variant NM_000712.4(BLVRA):c.215A>G (p.Tyr72Cys)

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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 RCV002938888 SCV003270451 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067247 SCV003727775 uncertain significance not specified 2021-10-26 criteria provided, single submitter clinical testing The c.215A>G (p.Y72C) alteration is located in exon 4 (coding exon 3) of the BLVRA gene. This alteration results from a A to G substitution at nucleotide position 215, causing the tyrosine (Y) at amino acid position 72 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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