ClinVar Miner

Submissions for variant NM_018341.3(ERMARD):c.661T>A (p.Tyr221Asn)

gnomAD frequency: 0.00031  dbSNP: rs146747272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900431 SCV001044749 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028502 SCV003572614 uncertain significance not specified 2021-07-14 criteria provided, single submitter clinical testing The c.661T>A (p.Y221N) alteration is located in exon 7 (coding exon 7) of the ERMARD gene. This alteration results from a T to A substitution at nucleotide position 661, causing the tyrosine (Y) at amino acid position 221 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000900431 SCV005050764 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ERMARD: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003975724 SCV004794943 benign ERMARD-related disorder 2020-05-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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