ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)

dbSNP: rs759141702
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680145 SCV000807590 uncertain significance Microcephalic primordial dwarfism due to ZNF335 deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory in trans with a frameshift variant (S915fs) in a 3-year-old female with idiopathic pulmonary arterial hypertension, significant delays, hypotonis, microcephaly, dysmorphisms, broad thumbs and halluxes, hirsutism. A similarly affected microcephalic sister was also compound heterozygous.
Mendelics RCV000680145 SCV002519987 pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532188 SCV002964598 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 561147). This variant has not been reported in the literature in individuals affected with ZNF335-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.724_726del, results in the deletion of 1 amino acid(s) of the ZNF335 protein (p.Val242del), but otherwise preserves the integrity of the reading frame.
Duke University Health System Sequencing Clinic, Duke University Health System RCV000680145 SCV003919025 uncertain significance Microcephalic primordial dwarfism due to ZNF335 deficiency 2023-04-20 criteria provided, single submitter research

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