ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)

gnomAD frequency: 0.00004  dbSNP: rs184474885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868580 SCV001009925 benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV002051816 SCV002319081 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing Identified as heterozygous in several unrelated Chinese females with bilateral auditory neuropathy in published literature, and in one female with unilateral auditory neuropathy, suggesting possible X-linked dominant inheritance (Wang et al., 2020; Song et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 37/14851 (0.2491%) alleles from individuals of East Asian background in large population cohorts (gnomAD); unknown if this represents a pathogenic founder variant or a common benign variant in this population; This variant is associated with the following publications: (PMID: 31832524, Chai_2021_Editorial, 34175691, 25986071, 32684920)
Deafness Gene Diagnosis, Xijing Hospital RCV000149862 SCV000196716 likely pathogenic Deafness, X-linked 5 no assertion criteria provided clinical testing
OMIM RCV000149862 SCV000257353 pathogenic Deafness, X-linked 5 2015-08-01 no assertion criteria provided literature only

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