ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002956136 SCV003683473 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.7219G>C (p.E2407Q) alteration is located in exon 50 (coding exon 50) of the PIEZO1 gene. This alteration results from a G to C substitution at nucleotide position 7219, causing the glutamic acid (E) at amino acid position 2407 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003312085 SCV004010521 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003312085 SCV004260912 benign not provided 2022-10-29 criteria provided, single submitter clinical testing
OMIM RCV003152653 SCV003841040 affects Blood group, ER 2023-01-26 no assertion criteria provided literature only

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