ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn)

dbSNP: rs199830182
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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 RCV000546849 SCV000655956 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 700 of the DIAPH1 protein (p.Ile700Asn). This variant is present in population databases (rs199830182, gnomAD 0.06%). This missense change has been observed in individual(s) with deafness (PMID: 25342930). This variant is also known as p.I691N. ClinVar contains an entry for this variant (Variation ID: 475701). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480691 SCV004227131 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing BS1

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