ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.217del (p.Ala73fs)

dbSNP: rs1555486560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679993 SCV000807430 pathogenic Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant in a 13-year-old male with profound delays, tremulousness, respiratory distress, congenital ataracts, hypoglycemia, lactic acidemia, autistic features, scoliosis, pica, hypotonia, intermittent alopecia, osteoporosis, episodes of hypophosphatemia. Similarly affected sister had same compound heterozygous genotype.
Mayo Clinic Laboratories, Mayo Clinic RCV000676337 SCV000802109 likely pathogenic not provided 2016-03-08 no assertion criteria provided clinical testing
OMIM RCV000679993 SCV001430678 pathogenic Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2020-08-20 no assertion criteria provided literature only

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