ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.511G>A (p.Asp171Asn)

gnomAD frequency: 0.00009  dbSNP: rs758281375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811876 SCV002048554 uncertain significance not provided 2021-10-02 criteria provided, single submitter clinical testing The WFS1 c.511G>A; p.Asp171Asn variant (rs758281375) is reported in the literature in an individual affected with Low-frequency sensorineural hearing loss (Goncalves 2014) but was also exclusively found in control healthy population in a different study (Kytovuori 2013). This variant is absent in ClinVar but is found in the general population with an overall allele frequency of 0.009% (26/281974 alleles). The aspartic acid at codon 171 is moderately conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.698). Due to limited information, the clinical significance of the p.Asp171Asn variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001811876 SCV002452238 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing

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